Download MBBS (Bachelor of Medicine and Bachelor of Surgery) Pediatrics Definitions Mnemonic Shortcuts
1. The Field of Pediatrics. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6
2. Growth, Development, and Behavior. . . . . . . . . . . . . . . . . . . . . . . . . . . . . .10
3. Behavioral and Psychiatric Disorders. . . . . . . . . . . . . . . . . . . . . . . . . . . . .11
4. Learning Disorders. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .21
5. Children with Special Needs. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 23
6. Nutrition. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .25
7. Pediatric Drug Therapy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .29
8. The Acutely Il Child. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 34
9. Human Genetics. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .37
10. The Fetus and the Neonatal Infant. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 48
11. Adolescent Medicine. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 69
12 .Immunology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 72
13. Infectious Diseases. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 81
14. The Digestive System. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .85
15. Respiratory System. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 96
16. The Cardiovascular System. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .106
17. Diseases of the Blood. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 110
18. Nephrology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 114
19. Gynecologic Problems of Childhood. . . . . . . . . . . . . . . . . . . . . . . . . . . 121
20. The Endocrine System. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .124
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21. The Nervous System. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 126
22. Disorders of the Eye. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .154
23. The Ear. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 168
24. The Skin. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .169
25. Bone and Joint Disorders. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 182
26. Environmental Health Hazards. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .191
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References taken and adapted from:
1. "Kleigman, Behrman, Jenson, Stanton, Nelson Textbook of Paediatrics",
1st South Asia Edition, Saunders, Elsevier
2. "Eric C. Eichenwald, Anne R. Hansen, Camila R. Martin, Ann R. Stark,
Cloherty and Stark's Manual of Neonatal Care", 8th Edition, Wolters Kluwer
3. "Hiralal Konar, DC Dutta's Textbook of Obstetrics", 8th Edition, Jaypee
4. "K. Park, Park's Textbook of Preventive and Social Medicine", 23rd
Edition, Bhanot
5. "Myung K. Park, Pediatric Cardiology for Practitioners", 5th Edition,
Mosby Elsevier
6. "Michael Glynn, Wil iam Drake, Hutchison' Clinical Methods", 23rd Edition,
Saunders Elsevier
7. "Krishna M. Goel, Devendra K. Gupta, Hutchison's Paediatrics", 2nd
Edition, Jaypee
8. "Taussig, Landau, Le Souef, Martinez, Morgan, Sly, Pediatric Respiratory
Medicine", 2nd Edition, Mosby Elsevier
9. "Cassidy, Petty, Laxer, Linsley, Textbook of Pediatric Rheumatology", 6th
Edition, Saunders Elsevier
10. "Denis F. Geary, Franz Schaefer, Comprehensive Pediatric Nephrology",
1st Edition, Mosby Elsevier
11. "Kenneth F. Swaiman, Stephen Ashwal, Donna M. Ferriero, Pediatric
Neurology Principles and Practice", 4th Edition, Elsevier
12. "Sumner J. Yaffe, Jacob V. Aranda, Neonatal and Pediatric
Pharmacology Therapeutic Principles in Practice", 4th Edition, Wolters
Kluver, Lippincott Wil iams & Wilkins
4
13. "Richard J. Martin, Avroy A. Fanaroff, Michele C. Walsh, Fanaroff and
Martin's Neonatal and Perinatal Medicine Diseases of the Fetus and Infant",
4th Edition, Saunders Elsevier
14. "Somen Das, A Manual on Clinical Surgery, 9th Edition, Dr. S. Das
15. "John F. Moran, Clinical Methods: The History, Physical, and Laboratory
Examinations", 3rd edition
16. Physiology Journal, M. U. H. S. Nashik
5
1. The Field of Pediatrics
Quality of healthcare: the degree to which healthcare
services for individuals and populations increases the
likelihood of desired health outcomes and are consistent
with current professional knowledge
A. Safety: avoiding preventable injuries, reducing medical
errors
B. Effectiveness: providing services based on scientific
knowledge (clinical guidelines)
C. Patient-centeredness: care that is respectful and
responsive to individuals
D. Efficiency: avoiding the wasting of time and other
resources
E. Timeliness: reducing wait times, improving the practice
flow
F. Equity: consistent
care regardless
of
patient
characteristics and demographics
Quality
initiative: systematic,
data-guided
activities
designed to bring about immediate improvements in
healthcare delivery in particular settings
6
Performance measure: yardsticks by which al healthcare
providers
and
organizations
can
determine
how
successful they are in delivering recommended care and
improving patient outcomes
Performance management: a systematic process by
which an organization involves its employees in
improving the effectiveness of the organization and
achieving the organization's mission and strategic goals
Process
improvement: the systematic approach to
closing of process or system performance gaps through
streamlining and cycle time reduction, and identification
and elimination of causes of below specifications quality,
process variation, and non?value-adding activities
Reliability in healthcare: the measurable capability of a
process, procedure, or health service to perform its
intended function in the required time under commonly
occurring conditions (i.e., providing intended care on a
consistent basis)
Screening: the identification of a previously unrecognized
disease or disease precursor, using procedures or tests
that can be conducted rapidly and economical y on large
7
numbers of people with the aim of sorting them into
those who may have the condition(s)...and those who
are free from evidence of the condition(s)
Clinical research: studies of living human subjects, including
the laboratory-based development of new forms of
technology; studies of tge mechanism of human disease and
evaluations of therapeutic interventions; clinical trials,
outcome
studies,
and
healthcare
research;
and
epidemiological and behavioural studies
Hypothesis: formal statements that declare what the
investigator wil test and then either reject or fail to reject,
using appropriate statistical techniques
Objectives: statements as to what the investigators plan to
learn or accomplish by conducting the study
Prevalence: the total number of existing cases in a defined
population who developed a disease either at a point in time
or during some time period
Incidence: the rate at which newly diagnosed cases develop
over time in a population
8
Prognosis: the possible outcomes of a disease and the
frequency with which they can be expected to occur
Simulation: any exercise that al ows an individual to
experience a situation that, although not real, nevertheless
generates authentic responses on his or her part
Principlism: an approach to ethical problems that is based
on the application of the four principles of beneficience,
nonmaleficience, justice, and autonomy
Virtue: a trait that has moral or social value
Spirituality: a belief system that focuses on intangible
elements that impart vitality and meaning to one's life
9
2. Growth, Development, and Behavior
Psychological attachment: a
biological y
determined
tendency of a young child to seek proximity to the
parent during times of stress and their parents to
reestablish a sense of wel -being after a stressful
experience
Habituation: a basic form of learning in which repeated
stimulation results in a response decrement
Surveil ance: ongoing monitoring (tracking over time) of
such issues as parental concerns, children's progress
with milestones, psychosocial risk and resilience factors,
providers' efforts to both detect and address problems,
and fol ow-up regarding child/family outcomes
Percentile: the percentage of individuals in the group
who have achieved a certain measured quantity or a
developmental milestone
Normal: 95% of a population that fal s within 2 SD of the
mean from any given measurement
10
3. Behavioral and Psychiatric Disorders
Grief: a personal, emotional state of bereavement or an
anticipated response to loss, such as a death
Insomnia: difficulty initiating and/or maintaining sleep
that occurs despite age-appropriate time and opportunity
for sleep and results in some degree of impairment in
daytime functioning for the child and/ or family (ranging
from fatigue, irritability, lack of energy, and mild cognitive
impairment to effects on mood, school performance,
and quality of life)
Primary snoring: snoring without associated ventilatory
abnormalities on overnight polysomnogram (e.g., apneas or
hypopneas, hypoxemia, hypercapnia) or respiratory-related
arousals, and is a manifestation of the vibrations of the
oropharyngeal soft tissue wal s that occur when an
individual attempts to breathe against increased upper
airway resistance during sleep
Parasomnias: episodic nocturnal behaviors that often
involve cognitive disorientation and autonomic and skeletal
muscle disturbance
11
Restless leg/Wil is Ekbom syndrome: a chronic neurologic
disorder, characterized by an almost irresistible urge to
move the legs, often accompanied by uncomfortable
sensations in the lower extremities
Hypersomnia: a group of disorders characterized by
recurrent episodes of excessive daytime sleepiness,
reduced baseline alertness, and/or prolonged nighttime
sleep periods that interfere with normal daily functioning
Narcolepsy: a chronic lifelong CNS disorder, typical y
presenting in adolescence and early adulthood, that is
characterized by profound daytime sleepiness and
resultant significant functional impairment
Sleep attacks: irresistible state in that the child or
adolescent is unable to stay awake despite considerable
effort, and they occur even in the context of normal y
stimulating activities (e.g., during meals, in the middle of
a conversation)
Hypnogogic/Hypnopompic
hal ucinations: vivid
visual,
auditory, and sometimes tactile sensory experiences
occurring
during
transitions
between
sleep
and
wakefulness, primarily at sleep offset (hypnopompic) and
12
sleep onset (hypnogogic)
Sleep paralysis: the inability to move or speak for a few
secs or mins at sleep onset or offset, and often
accompanies the hal ucinations
Delayed sleep phase disorder: a circadian rhythm
disorder, involves a significant, persistent, and intractable
phase shift in sleepwake schedule (later sleep onset
and wake time) that conflicts with the individual's normal
school, work, and/or lifestyle demands
Rumination disorder: the repeated regurgitation of food,
where
the regurgitated
food
may
be
rechewed,
reswal owed, or spit out, for a period of 1 mth fol owing
a period of normal functioning
Pica: the persistent eating of nonnutritive, nonfood
substances (e.g., paper, soap, plaster, charcoal, clay,
wool, ashes, paint, earth) over a period of 1 mth
Tourette disorder, persistent (chronic) motor or vocal tic,
and provisional tic disorders: disorders characterized by
involuntary, rapid, repetitive, single or multiple motor
13
and/or vocal/phonic tics that wax and wane in frequency
but have persisted for >1 yr since first tic onset (<1 yr
for provisional tic disorder)
Stereotypic movement disorder: a neurodevelopmental
disorder characterized by repetitive, seemingly driven, and
apparently purposeless motor behavior (stereotypy) that
interferes with social, academic, or other activities that
may result in self-injury
Habit: an action or pattern of behavior that is repeated
often
Anxiety disorder: pathologic anxiety in which anxiety
becomes disabling, interfering with social interactions,
development, and achievement of goals or quality of life,
and can lead to low self-esteem, social withdrawal, and
academic underachievement
Childhood-onset social phobia (social anxiety disorder): a
disorder characterized by excessive anxiety in social
settings (including the presence of unfamiliar peers, or
unfamiliar adults) or performance situations, leading to
social isolation and is associated with social scrutiny
and fear of doing something embarrassing
14
Panic disorder: a
syndrome
of
recurrent,
discrete
episodes of marked fear or discomfort in which patients
experience abrupt onset of physical and psychologic
symptoms cal ed panic attacks
Obsessions: specific repetitive thoughts that invade
consciousness
Compulsions: repetitive rituals or movements that are driven
by anxiety
Phobia: excessive and unreasonable fear which can be
cued by the presence or anticipation of the feared
trigger, with anxiety symptoms occurring immediately
Systematic desensitization: a form of behavior therapy
that gradual y exposes the patient to the fear-inducing
situation
or
object,
while simultaneously
teaching
relaxation techniques for anxiety management
Post traumatic stress disorder: an
anxiety
disorder
resulting from the long- and short-term effects of trauma
that cause behavioral and physiologic sequelae
15
Mood
disorders: interrelated
sets
of
psychiatric
symptoms characterized by a core deficit in emotional
self-regulation
Major depressive disorder: a disorder characterized by a
distinct period of 2 wk in which there is a depressed or
irritable mood and/or loss of interest or pleasure in almost
al activities that is present for most of the day, nearly every
day
Persistent depressive disorder (dysthymia): a disorder
characterized by depressed or irritable mood for more days
than not, for 1 yr
Manic episode: a distinct period of 1 wk in which there is an
abnormal y and persistently elevated, expansive, or irritable
mood and abnormal y and persistently increased goal-
directed activity or energy that is present for most of the day,
nearly every day (or any duration if hospitalization is
necessary)
Cyclothymic disorder: a disorder characterized by a period of
1 yr in which there are numerous periods with hypomanic
and depressive symptoms that do not meet criteria for a
hypomanic episode or a major depressive episode,
respectively
16
Eating disorders: the disorders characterized by body
dissatisfaction related to overvaluation of a thin body
ideal associated with dysfunctional patterns of cognition
and weight-control behaviors that result in significant
biologic, psychological, and social complications
Anorexia nervosa: a significant overestimation of body size
and shape, with a relentless pursuit of thinness that typical y
combines excessive dieting and compulsive exercising in the
restrictive subtype; in the binge-purge subtype, patients
might intermittently overeat and then attempt to rid
themselves of calories by vomiting or taking laxatives, stil
with a strong drive for thinness
Bulimia nervosa: a disorder characterized by episodes of
eating large amounts of food in a brief period, fol owed by
compensatory vomiting, laxative use, and exercise or fasting
to rid the body of the effects of overeating in an effort to
avoid obesity
Attention
deficit hyperactivity disorder: a disorder
characterised by impulsivity, hyperactivity, and a decreased
ability to maintain attention
Avoidant Restrictive Food Intake Disorder (ARFID): a group
17
of conditions in which food intake is restricted or avoided
due to adverse feeding or eating experiences or the sensory
qualities of food, resulting in significant nutritional
deficiencies and problems with social interactions
Oppositional defiant disorder: a disorder characterized by a
pattern lasting 6 mths of angry, irritable mood,
argumentative/defiant behavior, or vindictiveness exhibited
during interaction with 1 individual who is not a sibling
Intermittent explosive disorder: a disorder characterized by
recurrent verbal or physical aggression that is grossly
disproportionate to the provocation or to any precipitating
psychosocial stressors
Conduct disorder: a disorder characterized by a repetitive
and persistent pattern over 12 mths of serious rule-violating
behavior in which the basic rights of others or major societal
norms or rules are violated
Autism spectrum disorder: a disorder characterized by a
persistent impairment in reciprocal social communication
and interaction, and restricted, repetitive patterns of
behavior or interests
18
Psychosis: a severe disruption of thought, perception, and
behavior resulting in loss of reality testing
Delusions: fixed, unchangeable, false beliefs even in light of
conflicting evidence
Hal ucinations: vivid and clear perception-like experiences
that occur without external stimulus and have the ful force
and impact of normal perceptions
Il usions: misinterpretations of actual sensory stimuli
Delirium: an activated mental state that may include
disorientation, irritability, fearful responses, and sensory
misperception
Brief psychotic disorder: a disorder characterized by the
sudden onset (within 2 wk from baseline function) of these
symptoms in the context of emotional turmoil or
overwhelming confusion, fol owed by complete resolution
Neurodevelopmental dysfunctions: disruptions of neuro-
anatomic structure or psychophysiologic function and place
19
a child at-risk for developmental, cognitive, emotional,
behavioral, psychosocial and adaptive chal enges
Intel ectual function: the capacity to think in the abstract,
reason, problem solve and comprehend
Memory: the cognitive mechanism by which information is
acquired, retained, and recal ed
20
4. Learning Disorder
Dyslexia/Reading disability: an unexpected difficulty in
reading, that is, unexpected in relation to intel igence,
chronological age/grade level, education, or professional
status
Phonemic awareness: the ability to focus on and
manipulate phonemes (speech sounds) in spoken
syl ables and words
Phonology: the correct use of speech sounds to form words
Semantics: the correct use of words
Syntax: the appropriate use of grammar to make
sentences
Pragmatic abilities: verbal and nonverbal skil s that
facilitate the exchange of ideas, including the appropriate
choice of language for the situation and circumstance
and the appropriate use of body language (i.e., posture,
eye contact, gestures)
21
Developmental
dysphasia/Developmental
language
disorder/Specific
language
impairment:
a
disorder
characterized by a significant discrepancy between the
child's
overal
cognitive
level
(typical y
nonverbal
measures of intel igence) and functional language level
Selective mutism: a failure to speak in specific social
situations despite speaking in other situations, and it is
typical y a symptom of an underlying anxiety disorder
Hyperlexia: the precocious development of reading single
words that spontaneously occurs in some young children
(ages 2-5 yr) without specific instruction
Intel ectual disability: deficits in cognitive abilities and
adaptive behaviors
Stuttering: a disorder in the rhythm of speech in which the
person knows precisely what he or she wishes to say but at
the same time may have difficulty saying it because of an
involuntary repetition, prolongation, or cessation of sound
22
5. Children with Special Needs
Adoption: a social, emotional, and legal process that
provides a new family for a child when the birth family
is unable or unwil ing to parent
Bul ying: the assertion of power through social, emotional,
or physical means of aggression that involves a bul y
repeatedly and intentional y targeting a weaker victim
Cyberbul ying: an emerging form of bul ying that takes
place using electronic technology (text messaging, mass
emailing, Internet chat rooms, social networking sites, etc.)
Abuse: acts of commission, resulting in actual or
potential harm
Neglect: omissions in care, resulting in actual or
potential harm
Sexual
abuse:
the
involvement
of
dependent,
developmental y immature children and adolescents in
sexual activities which they do not ful y comprehend, to
23
which they are unable to give consent, or that violate
the social taboos of family roles
Psychological abuse: verbal abuse and humiliation and
acts that scare or terrorize a child
Pal iative care for children: the active total care of the
child's body, mind and spirit, and also involves giving
support to the family....Optimal y, this care begins when a
life-threatening il ness or condition is diagnosed and
continues regardless of whether or not a child receives
treatment directed at the underlying il ness
24
6. Nutrition
Estimated average requirement: the average daily nutrient
intake level estimated to meet the requirements for 50%
of the population, assuming normal distribution
Recommended dietary al owance: an estimate of the daily
average nutrient intake to meet the nutritional needs
of >97% of the individuals in a population, and it can be
used as a guideline for individuals to avoid deficiency in
the population
Estimated energy requirement: the average dietary energy
intake predicted to maintain energy balance in a healthy
individual and accounts for age, gender, weight, stature,
and physical activity level
Glycemic index: a measure of the height of blood sugar
levels 2 hrs fol owing ingestion against the reference
standard (a slice of white bread)
Fibers: nondigestible carbohydrates mostly derived from
plant sources, such as whole grain, fruits, and
vegetables, that escape digestion and reach the colon
25
nearly 100% intact
Vegetarianism: the practice of fol owing a diet that
excludes animal flesh foods, including beef, pork, poultry,
fish, and shel fish
Food security: the state when al people, at al times,
have access to sufficient, safe, nutritious food to
maintain a healthy and active life
Severe acute malnutrition: severe wasting and/or bilateral
edema.
A. Severe wasting: extreme thinness diagnosed by a
weight-for-length (or height) <3 SD of the WHO Child
Growth Standards. In children ages 6-59 mths, a mid-
upper arm circumference <115 mm also denotes extreme
thinness
B. Bilateral edema is diagnosed by grasping both feet,
placing a thumb on top of each, and pressing gently but
firmly for 10 secs. A pit (dent) remaining under each
thumb indicates bilateral edema
Failure to thrive: is a sign, not a diagnosis. FTT is
general y used to describe children younger than 2 or 3
26
yrs who meet any of the fol owing criteria:
A. Growth under the third percentile on World Health
Organization (WHO) weight for age growth charts (<3%
= less than 3 standard deviations below mean)
B. Weight for height or body mass index (BMI) less than
the 5th percentile
C. Growth patterns that have crossed two major
percentiles downward on the weight for age charts
within 6 mths
D. Growth velocity less than normal for age
Craniotabes: a softening of the cranial bones and can be
detected by applying pressure at the occiput or over the
parietal bones
Trace element: an element with <0.01% of the body
weight
Acid: a substance that releases ("donates") a hydrogen
ion (H+)
Base: a substance that accepts a hydrogen ion
27
Buffers: substances that attenuate the change in pH that
occurs when acids or bases are added to the body
28
7. Pediatric Drug Therapy
Pharmacogenetics: the study or clinical testing of genetic
variations that give rise to interindividual differences in the
response to drugs
Pharmacogenomics: the broader application of genome-
wide technologies and strategies to identify both disease
processes that represent new targets for drug development
and factors predictive of efficacy and risk of adverse drug
reactions
Metabolomics: the study of the complete set of low-
molecular weight molecules (metabolites) present in a
living system (cel , tissue, organ or organism) at a
particular developmental or pathological state
Metabonomics: the study of how the metabolic profile of
biological systems changes in response to alterations
because of pathophysiologic stimuli, toxic exposures,
dietary changes, etc
Pharmacometabonomics: the prediction of the outcome,
efficacy or toxicity, of a drug or xenobiotic intervention
29
in an individual based on a mathematical model of
preintervention metabolite signatures
Pharmacokinetics: the study of the movement of a drug
throughout the body and the concentrations (or amounts)
of a drug that reach a given body space and/or tissue
and its residence time therein
Pharmacodynamics: the relationship between drug dose
or drug concentration and response
Elimination half life: the time necessary for the drug
concentration to decrease by 50%
Metabolism: the biotransformation of an endogenous or
exogenous molecule by 1 enzymes to moieties that are
more hydrophilic and thus, can be more easily eliminated
by excretion, secretion or exhalation
Agonist: a drug that binds to and activates the receptor,
directly or indirectly achieving the desired effect
Partial agonist: a drug that binds to and activates the
30
receptor, but maximal effect is not achieved even in the
presence of receptor saturation
Antagonist: a drug that binds to a receptor preventing
binding of other molecules thereby preventing activation
of the receptor
Biomarker: a characteristic that is objectively measured
and evaluated as an indicator of normal biological
processes, pathogenic
processes,
or
pharmacologic
responses to a therapeutic intervention
Surrogate end point: a biomarker that is intended to
substitute for a specific clinical end point
Therapeutic drug monitoring: a retrospective, reactive
approach
whereby
drug concentrations
in
plasma
(primarily) or other biologic fluids are measured at some
point during either a constant rate intravenous infusion
or during a dosing interval for drugs given by
intermittent dosing schedules
Therapeutic range: the range of drug concentrations
associated with a high degree of efficacy and a low risk of
31
dose-related toxicity in the majority of patients
Absorption: the translocation of a drug from its site of
administration into the bloodstream
Drug distribution: the movement of drugs and other
compounds from the systemic circulation into various body
compartments, tissues, and cel s
First-pass effect: rapid metabolization or alteration of a drug
when it passes through the intestinal mucosa or liver for the
first time
Clinical
pharmacokinetics: a
prospective,
proactive
approach where plasma drug concentrations are used to
estimate pharmacokinetic parameters which are then
used to calculate a dosing regimen required to attain a
desired level of systemic exposure that would portend a
desired pharmacologic response
Adverse drug reaction: a response to a drug that is
noxious and unintended, and occurs at doses normal y
used in man for the prophylaxis, diagnosis or therapy of
disease or for the modication of physiological function
32
Adherence/Compliance: the extent to which a person's
behaviour (taking medication, fol owing a diet, and/or
executing lifestyle change) correspond with agreed
recommendations from a healthcare provider
Noncompliance: deviations from medical advice on the part
of the patient (such as using the wrong route of
administration, taking too low or too high a dose, or taking
the medication at the wrong times or for an inappropriate
length of time)
Malignant hyperthermia: an acute hypermetabolic syndrome
that is triggered by inhalational anesthetic agents and
succinylcholine
Unconventional analgesic medication: a wide number of
drugs that were developed for other indications but that
have been found to have analgesic properties
Cognitive-behavioral strategies: techniques that teach
children how to manage pain by learning new ways to
think about the pain and to change behaviors
associated with the pain
33
8. The Acutely Il Child
Gastric lavage: placing a tube into the stomach to
aspirate contents, fol owed by flushing with aliquots of
fluid, usual y water or normal saline
Prehospital care: emergency assistance rendered by
trained emergency medical personnel before a child
reaches a treating medical facility
Regionalization
(emergency
medical
services):
a
geographical y organized system of services that ensures
access to care at a level appropriate to patient needs
while maintaining efficient use of available resources
Brain death: the irreversible cessation of al functions of
the entire brain, including the brainstem
Apnea: the absence of respiratory effort in response to
an adequate stimulus
Syncope: a transient loss of consciousness and muscle
tone that result from inadequate cerebral perfusion,
34
fol owed by spontaneous recovery
A. Stretch
syncope: syncope which
occurs
while
stretching the neck and the trunk backward and the arms
outward, or during flexion of the neck, the presumed
mechanism is mechanical disruption of brain perfusion
caused by compression of the vertebral arteries
B. Reflex/Situational syncope: syncope that is triggered by
specific factors or events
Shock: an acute process characterized by the body's
inability to deliver adequate oxygen to meet the
metabolic demands of vital organs and tissues
Systemic
inflammatory
response
syndrome: an
inflammatory cascade that is initiated by the host
response to an infectious or noninfectious trigger
Respiratory failure: state when oxygenation and ventilation
are insufficient to meet the metabolic demands of the body
Tension pneumothorax: a state when air accumulates
under pressure in the pleural space
35
Lacerations: tears of the skin caused by blunt or shearing
forces
Cut: an injury inflicted by a sharp object
Abrasion: a scrape to the epidermis, and sometimes the
dermis, that is usual y caused by friction of the skin
against a rough surface
Ventilation: the process of carbon dioxide removal
Weaning (from ventilator): the process in which the work of
breathing is shifted from the ventilator to the patient
36
9. Human Genetics
Genetics: the science of genes, heredity, and the variation of
organisms
Linkage testing: tracking a genetic trait through a family
using closely linked polymorphic markers as a surrogate for
the trait
Clinical validity: the degree to which the test correctly
predicts presence or absence of disease
False-negative results: an inability to detect a mutation in an
affected patient
Clinical utility: the degree to which the results of a test guide
clinical management
Genetic counseling: a communication process in which
the genetic contribution to health is explained, along with
specific risks of transmission of a trait and options to
manage the condition and its inheritance
37
Founder effect: a specific change affecting a disease-
causing gene becomes relatively common in a population
derived from a smal number of founders
Genomic disorders: a group of diseases caused by
alterations in the genome, including deletions (copy number
loss), duplications (copy number gain), inversions (altered
orientation of a genomic region) and chromosomal
rearrangements (altered location of a genomic region)
Contiguous gene disorders: a group of diseases caused by
changes that affect two or more genes that contribute to the
clinical phenotype and are located near each other on a
chromosome
Translocation: a type of chromosomal rearrangement in
which a genomic region from 1 chromosome is
transferred to a different location on the same
chromosome or on a nonhomologous chromosome
Mosaicism: a condition in which only a portion of cel s that
make up a person's body are affected by the single gene
defect, the genomic disorder or the chromosomal defect
38
Gonadal/Germline mosaicism: occurrence of more than one
genetic constitution in the precursor cel s of eggs or sperm
Polygenic
disorders: the disorders caused
by
the
cumulative effects of changes or variations in more than
1 gene
Multifactorial disorders: the disorders caused by the
cumulative effects of changes or variations in multiple
genes and/or the combined effects of both genetic and
environmental factors
Loss-of-function mutation: a reduction in the level of
protein function as a result of decreased expression or
production of a protein that does not work as efficiently
Haploinsufficiency: the situation in which maintenance of
a normal phenotype requires the proteins produced by
both copies of a gene, and a 50% decrease in gene
function results in an abnormal phenotype
Gain-of-function mutations: the mutations which result in
production of a protein molecule with an increased ability
to perform a normal function or they can confer a novel
39
property on the protein
Polymorphisms: the genetic variants in a single gene that
occur at a frequency of >1% in a population
Anticipation: occurrence of a genetic disorder at earlier age
of onset and/or at increased severity in successive
generations
Alternative splicing: formation of diverse mRNAs through
differential splicing of an mRNA precursor
Codon: three consecutive bases/nucleotides in DNA/RNA
that specify an amino acid
Al ele: one of a series of alternative DNA sequences for a
particular gene
Exon: segment of a gene (usual y protein coding) that
remains after splicing of the primary RNA transcript
Intron: segment of a gene transcribed into the primary RNA
40
transcript but excised during exon splicing, thus does not
code for a protein
Genome: the individual's (or cel 's) total genetic information
Transcription: production of mRNA from DNA template
Translation: the process by which protein is synthesized
from an mRNA sequence
Karyotype: classified chromosome complement of an
individual or a cel
Domain: segment of a protein associated with a specialized
structure or function
Crossover: exchange of genetic material between
homologous chromosomes during meiosis
Conservation: sequence similarity for genes present in two
distinct organisms or for gene families; can be detected by
measuring the sequence similarity at nucleotide or amino
41
acid level
Concordant: both members of a twin pair show the trait
Discordant: only one member of a twin pair shows the trait
Compound: individual with two different mutant al eles at a
locus
Genotype: the internal y coded, heritable information of an
individual and can also be used to refer to which
particular alternative version (al ele) of a gene is present
at a specic location (locus) on a chromosome
Phenotype: the observed structural, biochemical, and
physiologic characteristics of an individual, determined by
the genotype, and can also refer to the observed structural
and functional effects of a mutant al ele at a specific locus
Germline: cel lineage resulting in eggs or sperm
Germline mutation: any detectable, heritable variation in the
42
lineage of germ cel s transmitted to offspring while those in
somatic cel s are not
Heterozygote: person with one normal and one mutant al ele
at a given locus on a pair of homologous chromosomes
Homozygote: person with identical al eles at a given locus
on a pair of homologous chromosomes
Pedigree: a graphic depiction of a family's structure and
medical history
Proband: the child or adolescent who is being evaluated
First-degree relatives: the relatives who share 1/2 of their
genetic information, such as a parent, ful sibling, or child
Horizontal transmission: the observation of multiple
affected members of a kindred in the same generation,
but no affected family members in other generations
Digenic inheritance: two genes interacting to produce a
43
disease phenotype
Lyon hypothesis/X inactivation: principle of inactivation of
one of the two X chromosomes in normal female cel s
Pleiotropy: multiple effects of a single gene
Consanguinity: the existence of a relationship by a
common ancestor and increases the chance that both
parents carry a gene affected by an identical mutation
that they inherited
Heteroplasmy: a condition in which a cel can have a
mixture of normal and abnormal mitochondrial genomes
Homoplasmy: a condition in which a daughter cel receives
al wild-type or al mutant mtDNA
Epigenetics: the study of the causal interactions between
genes and the phenotype
Polyploid cel s: the euploid cel s with more than the
44
normal diploid number of 46 (2n) chromosomes: 3n, 4n
Aneuploid cel s: abnormal cel s that do not contain a
multiple of haploid number of chromosomes
Nondisjunction: the failure of chromosomes to disjoin
normal y during meiosis
Inversion: a single chromosome break at 2 points; the
broken piece is then inverted and joined into the same
chromosome
Microdeletion: a loss of smal chromosome regions, the
largest of which are detectable only with prophase
chromosome studies and/or molecular methods
Duplication: the presence of extra genetic material from
the same chromosome
Contiguous gene deletion: a deletion involving more than
a single gene
45
Insertions: a condition when a piece of a chromosome
broken at 2 points is incorporated into a break in another
part of a chromosome
Turner syndrome: a condition characterized by complete or
partial monosomy of the X chromosome and defined by a
combination of phenotypic features
Uniparental disomy: a condition when both chromosomes
of a pair or areas from 1 chromosome in any individual
have been inherited from a single parent
Genomic imprinting: a condition when the phenotypic
expression of a gene depends on the parent of origin for
certain genes or in some cases entire chromosome regions
Familiality: the ratio of the prevalence rate in siblings and/or
parents to the prevalence rate in the general population
Heritability of a trait: the estimate of the fraction of the
total variance contributed by genetic factors
Locus heterogeneity: the situation in which a trait results
46
from the independent action of >1 gene
Al elic heterogeneity: the presence of >1 variant in a
particular gene contributing to disease risk
Phenocopy: the development of a trait or disease from a
nongenetic mechanism
Penetrance: a phenomenon that any variant or al ele
(inherited unit, DNA segment, or chromosome) in a gene
has a certain probability of being affected with a
specific gene variant-associated disease
Empiric risk: recurrence risk based on experience rather than
calculation
Telomeres: a series of tens to thousands of TTAGGG
repeats at the ends of chromosomes that are important
for stabilizing the chromosomal ends and limiting
breakage, translocation, and loss of DNA material
47
10. The Fetus and the Neonatal Infant
Family planning: a way of thinking and living that is adopted
voluntarily, upon the basis of knowledge, attitudes and
responsible decisions, by individuals and couples, in order to
promote the health and welfare of the family group and thus
contribute effectively to the social development of a country
High-risk pregnancies: those pregnancies that increase
the likelihood of abortion, fetal death, preterm delivery,
intrauterine growth restriction, poor cardiopulmonary or
metabolic transitioning at birth, fetal or neonatal disease,
congenital malformations, or mental retardation and
other handicaps
Maternal death: the death of a woman while pregnant or
within 42 days of termination of pregnancy, irrespective of
the duration and site of pregnancy, from any cause related to
or aggravated by the pregnancy or its management but not
from accidental or incidental causes
Maternal mortality ratio: the number of maternal deaths
(during pregnancy and within 42 days postpartum) per
1,00,000 live births
48
Maternal mortality rate: the number of maternal deaths
(during pregnancy and within 42 days postpartum) per
1,00,000 pregnant females
Stil birth: fetal deaths greater than 1000 g or more than 28
completed wks per 1000 total births
Perinatal mortality rate: stil births plus early neonatal deaths
(upto 1st wk of life) per 1000 total births
Neonatal mortality rate: deaths at less than 28 days per
1000 live births
Postneonatal mortality rate: deaths from 28 days until 1 yr
per 1000 live births
Infant mortality rate: deaths in the first yr of life per 1000 live
births
Superfecundation: the fertilization of an ovum by an
insemination that takes place after 1 ovum has already
been fertilized
49
Superfetation: the fertilization and subsequent development
of an embryo when a fetus is already present in the uterus
Labor: a series of events that take place in the genital
organs in an effort to expel the viable products of
conception (fetus, placenta and the membranes) out of
the womb through the vagina into the outer world
Delivery: the expulsion or extraction of a viable fetus out
of the womb
Normal labor/Eutocia: labor is cal ed normal if it fulfil s
the fol owing criteria
A. Spontaneous in onset and at term
B. With vertex presentation
C. Without undue prolongation
D. Natural termination with minimal aids
E. Without having any complications affecting the health of
the mother and/or the baby
Abnormal labor/Dystocia: any deviation from the definition
of normal labor
50
Polyhydramnios: a state where liquor amni >2,000 mL or AFI
>25 cm or maximum vertical pocket of liquor >8 cm (>95th
percentile)
Oligohydramnios: a state where liquor amni <200 mL at
term or the maximum vertical pocket of liquor <2 cm or
when amniotic fluid index (AFI) <5 cm (<5th percentile)
Prolonged labor: a state when the combined duration of the
first and second stage is more than the arbitrary time
limit of 18 hrs
Erythroblastosis
fetalis: a condition caused
by
the
transplacental passage of maternal antibody active
against paternal RBC antigens of the infant and is
characterized by an increased rate of RBC destruction
Chorioamnionitis: the clinical syndrome of intrauterine
infection, which includes maternal fever, with or without
local or systemic signs of chorioamnionitis (uterine
tenderness, foul-smel ing vaginal discharge/amniotic fluid,
maternal leukocytosis, maternal and/or fetal tachycardia)
Fetal/Intrauterine growth restriction: any fetus that does
not reach his or her intrauterine growth potential or
51
fetuses weighing <10th percentile for gestational age
Chronic hypertension: hypertension preceding pregnancy or
first diagnosed before 20 wks' gestation or that persists 6 to
12 wks postpartum
Chronic hypertension with superimposed preeclampsia:
worsening hypertension and new-onset proteinuria, in
addition to possible concurrent thrombocytopenia, or
transaminase derangements after the 20th wk of pregnancy
in a woman with known chronic hypertension
Gestational hypertension: new onset of sustained elevated
blood pressure (140 mm Hg systolic or 90 mm Hg
diastolic) in a previously normotensive woman, detected
after 20 wks' gestation
Preeclampsia: new onset elevated blood pressures (140
mm Hg systolic or 90 mm Hg diastolic) with proteinuria
(300 mg of protein in a 24-hr period or protein/
creatinine ratio 0.3 mg/mg), detected after 20 wks'
gestation
Eclampsia: a generalized tonic-clonic seizure activity in a
pregnant woman with preeclampsia, that cannot be
52
attributed to other causes, with no prior history of a seizure
disorder
Gestational diabetes mel itus: glucose intolerance beginning
or diagnosed for the first time during pregnancy, after 20
wks of gestation
Hydrops fetalis: the presence of extracel ular fluid in 2 fetal
body compartments. These fluid colections include skin
edema (>5 mm thickness), pericardial effusion, pleural
effusions, and ascites
Fetal growth discordance (twin pregnancy): a difference in
birth weight >20% of the larger twin's weight
Intrauterine fetal demise (twin pregnancy): fetal demise
after 20 wks' gestation but before delivery and is confirmed
by ultrasonographic evidence of absent fetal cardiac activity
Perinatal period: the period from the 28th wk of
gestation through the 7th day after birth
Neonatal period: the 1st 28 days after birth
53
Transitional period: the first 4 to 6 hrs after birth
Infancy: the 1st yr after birth
Fontanel: a wide gap in the suture line
Molding: the alteration of the shape of the forecoming head
while passing through the resistant birth passage during
labor
Caput succedaneum: a diffuse, sometimes ecchymotic,
edematous swel ing of the soft tissues of the scalp
involving the area presenting during vertex delivery
Cephalohematoma: a subperiosteal hemorrhage occurring
due to injury during delivery, hence always limited to the
surface of 1 cranial bone
Subgaleal hemorrhage: a col ection of blood beneath the
aponeurosis that covers the scalp and serves as the
insertion for the occipitofrontalis muscle
54
Trophic feeding/Minimal enteral nutrition/Gut priming: the
nonnutritive use of very smal volumes of human milk or
formula, for the intended purpose of preservation of gut
maturation rather than nutrient delivery
Anoxia: the consequences of complete lack of oxygen as
a result of a number of primary causes
Hypoxemia: a decreased arterial concentration of oxygen
Hypoxia: a decreased oxygenation to cel s or organs
Ischemia: the blood flow to cel s or organs that is
insufficient to maintain their normal function
Diaphragmatic hernia: a communication between the
abdominal and thoracic cavities with or without
abdominal contents in the thorax
Eventration of the diaphragm: an abnormal elevation,
consisting of a thinned diaphragmatic muscle that causes
elevation of the entire hemidiaphragm or, more commonly,
the anterior aspect of the hemidiaphragm
55
Plethora: a ruddy, deep red-purple appearance associated
with a high hematocrit, is often due to polycythemia,
defined as a central hematocrit 65%
Omphalocele: a herniation or protrusion of the abdominal
contents into the base of the umbilical cord
Hyperthermia in a newborn: the elevations in temperature
(38-39?C [100-103?F]) occasional y noted on the 2nd or
3rd day after birth in infants whose clinical course has
been otherwise satisfactory
Dysmorphology: the study of abnormalities of human
form and the mechanisms that cause them
Malformation: a primary structural defect arising from a
localized error in morphogenesis and resulting in the
abnormal formation of a tissue or organ
Dysplasia: an abnormal organization of cel s into tissues
Deformation: an alteration in shape or structure of a
structure or organ that has differentiated normal y
56
Disruption: a structural defect resulting from the destruction
of a structure that had formed normal y before the insult
Syndrome: a pattern of multiple abnormalities that are
related by pathophysiology and result from a single,
defined etiology
Sequences: multiple malformations that are caused by a
single event that can have many etiologies
Association: a nonrandom col ection of malformations in
which there is an unclear or unknown relationship
among the malformations such that they do not fit the
criteria for a syndrome or sequence
Cephalization: a diversion of blood flow away from nonvital
organs such as kidney (resulting in oligohydramnios) toward
vital organs such as the brain, in response to increasing
hypoxia
Neonatal tetanus (surveil ance case definition): the ability of
a newborn to suck at birth and for the 1st few days of life,
fol owed by an inability to suck starting between 3 and 10
days of age, difficulty swal owing, spasms, stiffness,
57
seizures, and death
Birth injury: an impairment of the infant's body function
or structure due to adverse influences that occurred at
birth. Injury may occur antenatal y, intrapartum, or during
resuscitation and may be avoidable or unavoidable
Resuscitation: efforts at delivery designed to help the
newborn make the respiratory and circulatory transitions
that must be accomplished immediately after birth
Smal for gestational age: a neonate whose birth weight or
birth crown-heel length is <10th percentile for GA
Large for gestational age: a neonate whose birth weight or
birth crown-heel length is >90th percentile for GA.
Epstein pearls: smal white inclusion cysts clustered about
the midline at the juncture of the hard and soft palate
Excessive high-pitched cry: the cry when the infant is unable
to self-console in 15 secs or continuous up to 5 mins despite
intervention
58
Excessive sucking: rooting with more than three attempts
noted to suck fist, hand, or pacifier before or after feeding
Kangaroo care: skin-to-skin holding technique consistently
associated with improved infant outcomes (i.e., fewer
respiratory complications, improved weight gain, and
temperature regulation) and maternal outcomes (i.e.,
improved maternal competence and longer breastfeeding
duration)
Hyperthermia: an elevated core body temperature, may
be caused by a relatively hot environment, infection,
dehydration, CNS dysfunction, or medications
Radiation: heat dissipates from the infant to a colder
object in the environment
Convection: heat is lost from the skin to moving air
Evaporation: heat is lost through conversion of water to gas
Conduction: heat is lost due to transfer of heat from the
infant to the surface on which he or she lies
59
NICU discharge readiness: the attainment of technical skil s
and knowledge, emotional comfort, and confidence with
infant care by the primary caregivers at the time of
discharge
NICU discharge preparation: the process of facilitating
discharge readiness to successful y make the transition
from the NICU to home
Engorgement (breasts): a severe form of increased breast
ful ness that usual y presents on day 3 to 5 postpartum
signaling the onset of copious milk production
Neonatal hyperglycemia: a whole blood glucose level
>125 mg/dL or plasma glucose values >145 mg/dL
Neonatal
hypocalcemia: a total
serum calcium
concentration <7
mg/dL
or
an ionized
calcium
concentration <4 mg/dL (1 mmol/L)
Neonatal hypercalcemia: a serum total calcium level >11
mg/dL or serum ionized calcium level >5.8 mg/dL
60
Neonatal hypermagnesemia: a serum magnesium level >3
mg/dl
Neonatal hypomagnesemia: a serum magnesium level <1.6
mg/dl
Neonatal hyperbilirubinemia: a serum total bilirubin >95th
percentile on the hr specific Bhutani nomogram
Severe hyperbilirubinemia: a serum total bilirubin >25 mg/dL
in term and late preterm infants, and presumably lower
in preterm infants
Kernicterus: the chronic and permanent sequelae of
bilirubin toxicity that develop during the first yr of age
Necrotising enterocolitis: an acute inflammatory injury of
the distal smal and often proximal large intestine
Neonatal proteinuria: urinary proteins >250 mg/m2/day
Neonatal massive proteinuria: urinary proteins >1.5g/m2/day
61
Renal tubular acidosis: metabolic acidosis resulting from
the inability of the kidney to excrete hydrogen ions or
to reabsorb bicarbonate
Capnography: the noninvasive measurement of the partial
pressure of carbon dioxide in exhaled breaths, expressed
as the CO2 concentration over time
Apnea in neonate: the cessation of airflow. Apnea is
pathologic (an apneic spel ) when absent airflow is
prolonged (usual y 20 sec) or accompanied by bradycardia
(heart rate <100 bpm) or hypoxemia that is detected
clinical y (cyanosis) or by oxygen saturation monitoring
A. Central apnea: inspiratory efforts are absent
B. Obstructive apnea: inspiratory efforts persist in the
presence of airway obstruction, usual y at the pharyngeal
level
C. Mixed apnea: airway obstruction with inspiratory
efforts precedes or fol ows central apnea
Transient tachypnea of the newborn: a benign, self-
limited process resulting from delayed clearance of fetal
lung fluid characterized by tachypnea with signs of mild
respiratory distress including retractions and cyanosis;
62
decreased oxygen saturation is usual y al eviated by
supplemental oxygen with FiO2 <0.04
Bronchopulmonary dysplasia:
A. For infants born at <32 wks' gestation who received
supplemental O2 for their first 28 days, BPD is defined at
36 wks' postmenstrual age (PMA) as
1. Mild: no supplemental O2 requirement
2. Moderate: supplemental O2 requirement <30%
3. Severe: supplemental O2 requirement 30% and/or
continuous positive airway pressure (CPAP) or ventilator
support
B. For infants born at 32 wks, BPD is defined as
supplemental O2 requirement for the first 28 days with
severity level based on O2 requirement at 56 days
Persistent pulmonary hypertension of the newborn:
disruption of the normal perinatal fetal to neonatal
circulatory transition characterized by sustained elevation
in pulmonary vascular resistance (PVR) rather than the
decrease in PVR that normal y occurs at birth
Pulmonary hemorrhage: the presence of hemorrhagic fluid
63
in the trachea accompanied by respiratory decompensation
that requires increased respiratory support or intubation
within 60 mins of the appearance of fluid
Cyanosis: bluish
tinge of the skin and mucous
membranes
A. Central cyanosis: cyanosis that is associated with arterial
desaturation
B. Peripheral cyanosis: cyanosis associated with normal
arterial saturation
C. Circumoral cyanosis: cyanosis around the mouth
D. Acrocyanosis: a bluish or red discoloration of the
fingers and toes of normal newborns in the presence of
normal arterial oxygen saturation
Polycythemia: venous hematocrit 65%
Hyperviscosity: viscosity >2 SD greater than the mean
Neonatal thrombocytopenia: a platelet count <150 ? 10^3/L
A. Mild (100 to 149 ? 10^3/L)
B. Moderate (50 to 99 ? 10^3/L)
C. Severe (<50 ? 10^3/L)
64
Omphalitis: a condition characterized by erythema and/or
induration of the periumbilical area with purulent discharge
from the umbilical stump
Ophthalmia neonatorum: an inflammation of the conjunctiva
within the first mth of life
Congenital syphilis: demonstration of T. pal idum by
darkfield microscopy, polymerase chain reaction, or
immunohistochemical test, or special stains of specimens
from lesions, placenta, umbilical cord, or autopsy material
Latent syphilis: the period after infection when patients are
seroreactive but demonstrate no clinical manifestations of
disease
Tuberculosis exposure: a condition when an individual has
had contact with a case of contagious tuberculosis disease
in the past 3 mths
Tuberculosis infection: a condition when an individual has a
positive tuberculin skin test result or a positive interferon
gamma release assay result, a normal physical exam, and a
chest radiograph that is either normal or shows evidence of
65
healed calcifications
Tuberculosis disease: a condition when an evident il ness
(signs, symptoms, and/or radiographic changes) is caused
by Mycobacterium tuberculosis
Congenital tuberculosis disease: a condition when a neonate
is infected with M. tuberculosis in utero or during delivery
and develops disease afterward. This is determined by
having a positive acid-fast bacil us stain or culture from the
neonate, with exclusion of possible postnatal transmission,
and either lesions in the first wk of life, primary hepatic
complex or caseating hepatic granulomas, or tuberculosis
infection of the placenta or maternal genital tract
Postnatal y acquired tuberculosis disease: a condition when
an infant is infected after delivery, either through inhalation
of M. tuberculosis from a contagious caregiver or ingestion
of M. tuberculosis via infected breast or cow milk, and
develops signs, symptoms, and/or radiographic evidence of
tuberculosis disease
Perinatal asphyxia: a condition during the first and
second stage of labor in which impaired gas exchange
leads to fetal acidosis, hypoxemia, and hypercarbia
66
Congenital anomaly: an internal or external structural defect
that is identifiable at birth
Developmental: a deviation that occurs over time; one
that might not be present or apparent at birth
Dysmorphisms: anomalous external physical features
Myelomeningocele: a saccular outpouching of neural
elements (neural placode), typical y through a defect in
the bone and the soft tissues of the posterior thoracic,
sacral, or lumbar regions
Encephalocele: a defect of anterior neural tube closure is
an outpouching of dura with or without brain, noted in
the occipital region
Anencephaly: a defect in the cranial vault and posterior
occipital bone, exposing the derivatives of the neural tube,
including both brain and bony tissue
Meningocele: herniation of the meninges through a defect
in the posterior vertebral arches or the anterior sacrum
67
Congenital muscular torticol is: a disorder characterized
by limited motion of the neck, asymmetry of the face
and skul , and a tilted position of the head
Congenital scoliosis: a lateral curvature of the spine
secondary to a failure either of formation of a vertebra
or of segmentation
Sacral agenesis: the absence of part or al of 2 lower
vertebral bodies
Osteopenia:
a
condition
when
postnatal
bone
mineralization is inadequate to ful y mineralize bones
Vernix caseosa: a greasy substance that protects the fetal
skin during the lengthy immersion in amniotic fluid
Inborn errors of metabolism: a group of disorders each
of which results from deficient activity of a single
enzyme in a metabolic pathway
68
11. Adolescent Medicine
Puberty: the biologic transition from childhood to adulthood
Gender identity: a person's basic sense of being a
boy/man, girl/ woman, or other gender (e.g., transgender)
Gender role: one's role in society, typical y either the
male or female role
Social sex role/Gender expression: characteristics in
personality, appearance, and behavior that are, in a given
culture and time, considered masculine or feminine
Sexual orientation: attractions, behaviors, fantasies, and
emotional attachments toward men, women, or both
Sexual behavior: any sensual activity to pleasure oneself
or another person sexual y
Gender variant: any gender identity or role that varies from
what is typical y associated with one's sex assigned at birth
69
Transgender people: a diverse group of individuals who
cross or transcend cultural y defined categories of gender
A. Transsexuals: people who typical y live in the cross-
gender role and seek hormonal and/or surgical
interventions to modify primary or secondary sex
characteristics
B. Cross-dressers/Transvestites: people who wear clothing
and adopt behaviors associated with the other sex for
emotional or sexual gratification and may spend part of
the time in the cross-gender role
Sexual orientation: the degree of attraction to the people
of a particular sex
Childhood gender incongruity/dysphoria: a distinct phenom-
-enon in which an individual's gender identity differs from
phenotypic sex and assigned gender at birth
Violence: the intentional use of physical force or power,
threatened or actual, against oneself, another person, or
against a group or community that either results in or
has a high likelihood of resulting in injury, death,
psychologic harm, maldevelopment or deprivation
70
Oppositional
defiant
disorder: recurrent
pattern
of
negativistic, defiant, disobedient, and hostile behavior
toward authority figures that has a significant adverse
effect on functioning (e.g., social, academic, occupational)
Conduct disorder: repetitive and persistent pattern of
behavior that violates the basic rights of others or major
age-appropriate societal norms or rules
Legal label juvenile delinquency: offenses that are il egal
because of age; il egal acts
Huffing: the practice of inhaling fumes accomplished
using a paper bag containing a chemical-soaked cloth,
spraying aerosols directly into the nose/ mouth, or using
a bal oon, plastic bag, or soda can fil ed with fumes
Chronic fatigue syndrome: a complex, diverse, and
debilitating
il ness
characterized
by
chronic
or
intermittent fatigue accompanied by selected symptoms
for >3 mths (young children) or >6 mths duration
(adolescents or adults)
71
12 .Immunology
Chemotaxis: the direct migration of cel s into sites of
infection, involving a complex series of events
Phagocytosis: a process of particle ingestion
Leukopenia: an abnormal y low number of white blood
cel s in the circulating blood secondary to a paucity of
lymphocytes, granulocytes or both
Neutropenia: a decrease in the absolute number of
circulating segmented neutrophils and bands in the
peripheral blood
A. Chronic neutropenia: lasts >3 mths and arises from
reduced production, increased destruction or excessive
splenic sequestration of neutrophils
Agranulocytosis: absolute neutrophil count <200/cumm
Lymphopenia: absolute lymphocyte count <3000/cumm for
infants, and <100/cumm for older children
72
Leukocytosis: an elevation in the total leukocyte count >2
SD above the mean count for a particular age
Leukemoid reaction: a WBC count >50,000/cumm
Basophilia: an absolute basophil count >120 cel s/cumm
Immunization: the process of inducing immunity against
a specific disease
Vaccines: whole or parts of microorganisms administered
to prevent an infectious disease
Toxoid: a modified bacterial toxin that is made nontoxic
but is stil able to induce an active immune response
against the toxin
Autoimmune lymphoproliferative/Canale-Smith syndrome: a
disorder of abnormal lymphocyte apoptosis leading to
polyclonal populations of T cel s (double-negative T cel s),
which express CD3 and / antigen receptors but do not have
CD4 or CD8 coreceptors (CD3 + T cel receptor /+ CD4 CD8)
73
Hyper-IgM syndrome: a condition genetical y heterogeneous
and characterized by normal or elevated serum IgM levels
associated with low or absent IgG, IgA, and IgE serum levels,
indicating a defect in the class-switch recombination
process
T-cel activation defects: defects characterized by the
presence of normal or elevated numbers of blood T cel s
that appear phenotypical y normal but fail to proliferate or
produce cytokines normal y in response to stimulation with
mitogens, antigens, or other signals delivered to the T cel
receptors (TCR), owing to defective signal transduction
from the TCR to intracel ular metabolic pathways
Wiskott-Aldrich syndrome: an X-linked recessive syndrome,
characterized by atopic dermatitis, thrombocytopenic
purpura with normal-appearing megakaryocytes but smal
defective platelets, and undue susceptibility to infection
Ataxia-telangiectasia: a
complex
syndrome
with
immunologic, neurologic, endocrinologic, hepatic, and
cutaneous abnormalities
Chronic granulomatous disease: a disease characterized by
neutrophils and monocytes capable of normal chemotaxis,
74
ingestion, and degranulation, but unable to kil catalase
positive microorganisms because of a defect in the
generation of microbicidal oxygen metabolites
Hematopoietic stem cel transplantation:
A. Primary graft failure: failure to achieve a neutrophil
count of 200/cumm by 21 days posttransplantation
B. Secondary graft failure: loss of peripheral blood counts
fol owing initial transient engraftment of donor cel s
Al ergy/Atopy: altered state of reactivity to common
environmental and food antigens that do not cause clinical
reactions in unaffected people
Al ergic rhinitis: an inflammatory disorder of the nasal
mucosa marked by nasal congestion, rhinorrhea, and
itching, often accompanied by sneezing and conjunctival
inflammation
Asthma: a chronic inflammatory condition of the lung
airways resulting in episodic airflow obstruction
Cold urticaria: a condition characterized by the development
of localized pruritus, erythema, and urticaria/angioedema
75
after exposure to a cold stimulus
Cholinergic urticaria: a condition characterized by the onset
of smal punctate pruritic wheals surrounded by a prominent
erythematous flare associated with exercise, hot showers,
and sweating
Dermatographism/Urticaria factitia: the ability to write on
skin
Urticaria: transient, pruritic, erythematous, raised wheals,
with flat tops and edema that may become tense and
painful
Angioedema: pruritis involving the deeper subcutaneous
tissues in locations such as the eyelids, lips, tongue,
genitals, dorsum of the hands or feet, or wal of the
gastrointestinal tract
Anaphylaxis: a serious al ergic reaction that is rapid in
onset and may cause death
Atopic dermatitis: a form of eczema that general y
76
begins in early infancy and is characterized by pruritus, a
chronical y relapsing course, and association with asthma
and al ergic rhinitis
Systemic lupus erythematosus: a chronic autoimmune
disease characterized by multisystem inflammation and
the presence of circulating autoantibodies directed
against self-antigens
Heliotrope rash: a blue-violet discoloration of the eyelids that
may be associated with periorbital edema
Gottron papules: bright pink or pale, shiny, thickened or
atrophic plaques over the proximal interphalangeal joints
and distal interphalangeal joints and occasional y on the
knees, elbows, smal joints of the toes, and ankle mal eoli
Scleredema: a transient, self-limited disease of both children
and adults that has sudden onset after a febrile il ness
(especial y streptococcal infections) and is characterized by
patchy sclerodermatous lesions on the neck and shoulders
and extending to the face, trunk, and arms
Chilblains: a condition with episodic color changes and the
77
development of nodules related to severe cold exposure and
spasm-induced vessel and tissue damage
Sj?gren syndrome: a chronic, inflammatory, autoimmune
disease characterized by progressive lymphocytic and
plasma cel infiltration of the exocrine glands, especial y
salivary and lacrimal, with potential for systemic
manifestations
Hereditary periodic fever syndromes: a group of monogenic
diseases that present with recurrent bouts of fever and
associated pleural and/or peritoneal inflammation, arthritis,
and various types of skin rash
Amyloidosis: a group of diseases characterized by
extracel ular deposition of insoluble, fibrous amyloid
proteins in various body tissues
Hereditary autoinflammatory diseases: a group of il nesses
that are characterized by attacks of seemingly unprovoked
recurrent inflammation without significant levels of either
autoantibodies or antigen-specific Tbcel s, which are
typical y found in patients with autoimmune diseases
78
Vasculitis: an inflammation of blood vessels
Wegener's granulomatosis: a granulomatous inflammation
involving the respiratory tract and necrotising vasculitis
affecting smal - to medium- sized vessels
Microscopic polyangi tis/polyarteritis: a nongranulomatous,
multisystem, pauci-immune vasculitis without upper airway
involvement
Polyarteritis nodosa: a necrotising vasculitis of medium-
and/or smal -sized arteries
Henoch-Sch?nlein purpura: vasculitis characterized by
leukocytoclastic vasculitis and immunoglobulin (Ig) A
deposition in the smal vessels in the skin, joints,
gastrointestinal tract, and kidney
Relapsing polychondritis: a condition characterized by
episodic chondritis causing cartilage destruction and
deformation of the ears (sparing the earlobes), nose,
larynx and tracheobronchial tree
79
Sweet syndrome/Acute febrile neutrophilic dermatosis: a
condition characterized by fever, elevated neutrophil count,
and raised, tender erythematous plaques and nodules
over the face, extremities, and trunk
80
13. Infectious diseases
Prebiotic: nondigestible food components that beneficial y
affect the host by selectively stimulating the growth
and/or activity of 1 or a limited number of bacteria in
the colon and thereby improving host health
Probiotics: viable organisms that have health benefits
fol owing administration
Clean wounds: uninfected operative wounds where no
inflammation is noted at the operative site, and respiratory,
alimentary, and genitourinary tracts and the oropharynx are
not entered
Clean-contaminated wounds: operative wounds in which the
respiratory, alimentary, or genitourinary tract is entered
under control ed conditions and that do not have unusual
bacterial contamination preoperatively
Contaminated wounds: open, fresh, and accidental wounds;
major breaks in otherwise sterile operative technique; gross
spil age from the gastrointestinal tract; penetrating trauma
occurring <4 hr earlier; and incisions in which acute
81
nonpurulent inflammation is encountered
Dirty and infected wounds: penetrating traumatic wounds >4
hr prior to surgery, those with retained devitalized tissue, and
those in which clinical infection is apparent or in which the
viscera have been perforated
Travel medicine: specialty which provide specialized
guidance on the infectious and noninfectious risks based on
age, itinerary, duration, season, purpose of travel, and
underlying traveler characteristics (health and vaccination
status)
Fever: a rectal temperature 38?C (100.4?F)
Hyperpyrexia: a rectal temperature 40?C (104?F)
Fever without a focus: a rectal temperature 38?C (100.4?F)
as the sole presenting feature
A. Fever without localising signs: fever of acute onset, with
duration of <1 wk and without localizing sign
B. Fever of unknown origin: fever documented by a
healthcare provider and for which the cause could not be
82
identified after 3 wk of evaluation as an outpatient or after 1
wk of evaluation in the hospital
Catheter associated infections
A. Exit-site infection: infection localized to the exit site,
without significant tracking along the tunnel, often with
purulent discharge
B. Tunnel-tract infection: infection in the subcutaneous
tissues tracking along a tunneled catheter, which may
also include serous or serosanguineous discharge from
a draining sinus along the path
C. Pocket infection: suppurative infection of a subcutaneous
pocket containing a total y implanted device
Nosocomial/Hospital acquired infection: infection acquired
during hospital care which are not present or incubating at
admission
Toxic shock syndrome: an acute and potential y severe
il ness characterized by fever, hypotension, erythematous
rash with subsequent desquamation on the hands and
feet, and multisystem involvement, including vomiting,
diarrhea, myalgias, nonfocal neurologic abnormalities,
conjunctival hyperemia, and strawberry tongue
83
Facultative anaerobes: organisms being able to survive in
the presence of oxygen but growing better in reduced
oxygen tensions
Obligate anaerobes: organisms which cannot survive any
exposure to oxygen
Vincent angina/Acute necrotizing ulcerative gingivitis/
Trench mouth: an acute, fulminating, mixed anaerobic
bacterial-spirochetal infection of the gingival margin and
floor of the mouth
Ludwig angina: an acute, life-threatening cel ulitis of
dental origin of the sublingual and submandibular spaces
Cerebral malaria: the presence of coma in a child with P.
falciparum parasitemia and an absence of other reasons
for coma
84
14. The Digestive System
Dysphagia: difficulty in swal owing
Odynophagia: painful swal owing
Globus: the sensation of something stuck in the throat
without a clear etiology
Swal owing: a complex process that starts in the mouth with
mastication and lubrication of food that is formed into a
bolus
Regurgitation: the effortless movement of stomach contents
into the esophagus and mouth
Gastroesophageal reflux: the physiologic retrograde passage
of fluid from the stomach to the esophagus
A. Gastroesophageal reflux disease: the pathologic condition
wherein such retrograde flow into the esophagus causes
medical complications
85
Anorexia: prolonged lack of appetite
Vomiting: a highly coordinated reflex process that may be
preceded by increased salivation and begins with involuntary
retching fol owed by violent descent of the diaphragm and
constriction of the abdominal muscles with relaxation of the
gastric cardia actively force gastric contents back up the
esophagus
Open bite: a condition when the posterior mandibular and
maxil ary teeth make contact with each other, but the
anterior teeth are stil apart
Closed/Deep bite: a condition when mandibular anterior
teeth occlude inside the maxil ary anterior teeth in an
overclosed position
Cheilitis: the dryness of the lips fol owed by scaling and
cracking and accompanied by a characteristic burning
sensation
Ankyloglossia/Tongue-tie: a condition characterized by an
abnormal y short lingual frenum that can hinder the tongue
movement but rarely interferes with feeding or speech
86
Geographic tongue/Migratory glossitis: a
benign
and
asymptomatic lesion characterized by 1 smooth, bright
red patches, often showing a yel ow, gray, or white
membranous margin on the dorsum of an otherwise
normal y roughened tongue
Fissured/Scrotal
tongue: a
malformation
manifested
clinical y by numerous smal furrows or grooves on the
dorsal surface
Santmyer
swal ow: a reflex characterised by facial
stimulation by a puff of air inducing swal owing and
esophageal peristalsis in healthy young infants
Dysphagia
lusoria: the
dysphagia produced
by
a
developmental vascular anomaly, which is often an
aberrant right subclavian artery or right-sided or double
aortic arch
Achalasia: a primary esophageal motor disorder of unknown
etiology characterized by loss of lower esophageal sphincter
relaxation and loss of esophageal peristalsis, both
contributing to a functional obstruction of the distal
esophagus
87
Eosinophilic esophagitis: a chronic esophageal disorder
characterized by infiltration of the esophageal epithelium
by eosinophils, typical y in a density >15/hpf
Pil esophagitis: acute injury to esophagus produced by
contact with a damaging agent
Bezoar: an accumulation of exogenous matter in the
stomach or intestine
Peptic ulcers: deep mucosal lesions that disrupt the
muscularis mucosa of the gastric or duodenal wal
Stress ulceration: ulceration in GIT occurring within 24 hr of
onset of a critical il ness in which physiologic stress is
present
Diarrhea: excessive loss of fluid and electrolyte in the stool
A. Acute diarrhea: sudden onset of excessively loose stools
of >10 mL/kg/day in infants and >200 g/day in older children,
which lasts <14 days
B. Chronic/Persistent diarrhea: stool volume >10 ml/kg/day
in toddlers/infants and >200 g/day in older children that
88
lasts for 14 days
C. Secretory diarrhea: loose stools occurring when the
intestinal epithelial cel solute transport system is in an
active state of secretion
D. Osmotic diarrhea: diarrhea occurring after ingestion of a
poorly absorbed solute
Dysentery: the syndrome of bloody diarrhea with fever,
abdominal cramps, rectal pain, and mucoid stools
Malrotation of gut: incomplete rotation of the intestine
during fetal development and involves the intestinal
nonrotation or incomplete rotation around the superior
mesenteric artery
Chronic
intestinal
pseudoobstruction: a
group
of
disorders characterized as a motility disorder with a
primary defect of impaired peristalsis; symptoms are
consistent with intestinal obstruction in the absence of
mechanical obstruction
Constipation: a delay or difficulty in defecation present
for 2 wk and significant enough to cause distress to the
patient
89
Encopresis: voluntary or involuntary passage of feces
into inappropriate places at least once a mth for 3
consecutive mths once a chronologic or developmental
age of 4 yrs has been reached
Nonretentive fecal incontinence: no evidence of fecal
retention (impaction), 1 episode per wk in the previous 2
mths in a child at a developmental age >4 yr, defecation in
places inappropriate to the social context and no
evidence of anatomic, inflammatory, metabolic, endocrine,
or neoplastic process that could explain the symptoms
Ileus: the failure of intestinal peristalsis caused by loss
of
coordinated gut
motility
without
evidence
of
mechanical obstruction
Intussusception: condition when
a
portion
of
the
alimentary tract is telescoped into an adjacent segment
Gluten sensitivity: enteric (abdominal pain, bloating, diarrhea)
and systemic (headache, fatigue, muscle aches, rash)
symptoms after ingesting wheat in the absence of
enteropathy or HLA risk factors and autoantibodies
90
Gastroenteritis: infections of the gastrointestinal tract
caused by bacterial, viral, or parasitic pathogens
Recurrent abdominal pain in children: a condition with 3
episodes of pain over 3 mths that interfered with function
Chronic abdominal pain: long-lasting intermittent or constant
abdominal pain that is functional or organic (disease based)
Functional abdominal pain: abdominal pain without
demonstrable evidence of pathologic condition, such as
anatomic metabolic, infectious, inflammatory or neoplastic
disorder
Abdominal migraine: functional abdominal pain with features
of migraine (paroxysmal abdominal pain associated with
anorexia, nausea, vomiting or pal or as wel as maternal
history of migraine headaches)
Functional abdominal pain syndrome: functional abdominal
pain without the characteristics of dyspepsia, irritable bowel
syndrome, or abdominal migraine
Anal fissure: a laceration of the anal mucocutaneous
91
junction
Rectal mucosal prolapse: the exteriorization of the rectal
mucosa through the anus
Cirrhosis: the presence of bands of fibrous tissue that link
central and portal areas and form parenchymal nodules
Jaundice/Icterus: yel ow discoloration of the sclera, skin, and
mucous membranes
Pruritus: intense generalized itching
Hepatorenal syndrome: functional renal failure in patients
with end-stage liver disease
Neonatal cholestasis: prolonged elevation of the serum
levels of conjugated bilirubin beyond the 1st 14 days of life
Cholestasis: elevated serum conjugated bilirubin levels,
resulting from abnormal bile flow at the canalicular and
cel ular level as a result of hepatocyte damage and
92
inflammatory mediators
Choledochal cysts: congenital dilatations of the common
bile duct that can cause progressive biliary obstruction
and biliary cirrhosis
Acute hydrops of gal bladder: acute
noncalculous,
noninflammatory distention of the gal bladder in the
absence of calculi, bacterial infection, or congenital
anomalies of the biliary system
Portal hypertension: an elevation of portal pressure >10-
12 mm Hg
Ascites: the pathologic accumulation of fluid within the
peritoneal cavity
A. Chylous ascites: peritoneal fluid containing lymphatic
drainage with a characteristic milky appearance that is rich
in triglycerides
Peritonitis: inflammation of the peritoneal lining of the
abdominal cavity resulting from infectious, autoimmune,
neoplastic, and chemical processes
93
A. Primary peritonitis: bacterial infection of the peritoneal
cavity without a demonstrable intraabdominal source
B. Secondary peritonitis: peritonitis resulting from entry of
enteric bacteria into the peritoneal cavity through a
necrotic defect in the wal of the intestines or other
viscus as a result of obstruction or infarction or after
rupture of an intraabdominal visceral abscess
Hernia: a protrusion of whole or a part of a viscus through
the wal that contains it
Guarding: an involuntary reflex contraction of the muscles of
the abdominal wal overlying an inflamed viscus and
peritoneum
A. Rigidity: generalised guarding
Rebound tenderness: sudden pain experienced when
palpating slowly and deeply over a viscus and then releasing
the palpating hand
Linea alba: a pale line marking the midline of the abdomen
formed by fusion of the aponeurosis of the rectus abdominis
94
Linea nigra: a black line in the midline of the abdomen below
the umbilicus, seen in pregnancy
Subcostal line: a horizontal line drawn across at the level of
the lowest point of the 10th rib
Transpyloric plane: an imaginary plane at the level of the
lower border of L1 vertebra and the midpoint of the line
between the upper end of the xiphisternum and the
umbilicus
Transtubercular plane: an imaginary plane at the level of the
transverse line joining the tubercles marking the highest
point on the iliac crest
95
15. Respiratory System
Tidal volume: the amount of air moved in and out of
the lungs during each breath
Inspiratory capacity: the amount of air inspired by
maximum inspiratory effort after tidal expiration
Expiratory reserve volume: the amount of air exhaled by
maximum expiratory effort after tidal expiration
Residual volume: the volume of gas remaining in the
lungs after maximum expiration
Vital capacity: the amount of air moved in and out of
the lungs with maximum inspiration and expiration
Total lung capacity: the volume of gas occupying the
lungs after maximum inhalation
Functional residual capacity: the amount of air left in the
96
lungs after tidal expiration
Elastance: the property of a substance to oppose
deformation or stretching. It is calculated as a change
in pressure (P) divided by change in volume (V)
Elastic recoil: a property of a substance that enables it
to return to its original state after it is no longer
subjected to pressure
Resistance: the amount of pressure required to generate
flow of gas
Grunting: a respiratory sound produced
by expiration
against a partial y closed glottis in an attempt to maintain
positive airway pressure during expiration for as long as
possible
Tachypnea: increased rate of breathing
Eupnea: normal rate of breathing
97
Closing capacity: the lung volume at which the dependent
airways start to close
Dead space ventilation: air movement in areas that are
poorly perfused
Crackles/Rales: high-pitched, interrupted sounds found
during inspiration and more rarely during early expiration,
which denote opening of previously closed air spaces
Wheezes: musical, continuous sounds usual y caused by
the development of turbulent flow in narrow airways
Sudden infant death syndrome: the sudden, unexpected
death of an infant that is unexplained by a thorough
postmortem examination, which includes a complete
autopsy, investigation of the scene of death, and review
of the medical history
Arhinia: congenital absence of the nose
Nasal polyps: benign pedunculated tumors formed from
edematous, usual y chronical y inflamed nasal mucosa
98
Common cold: an acute viral infection of the upper
respiratory tract in which the symptoms of rhinorrhea
and nasal obstruction are prominent
Rhinitis medicamentosa: an apparent rebound effect that
causes the sensation of nasal obstruction when the
topical adrenergic drug is discontinued
Pharyngitis: inflammation
of the pharynx, including
erythema, edema, exudates, or an enanthem (ulcers,
vesicles)
Cough: a reflex response of the lower respiratory tract to
stimulation of irritant or cough receptors in the airways'
mucosa
Stridor: a harsh, high-pitched respiratory sound, which is
usual y inspiratory but can be biphasic and is produced
by turbulent airflow
Laryngitis/Laryngotracheitis/Laryngotracheobronchitis: infla-
-mmation involving the vocal cords and structures
inferior to the cords
99
Supraglottitis: inflammation of the structures superior to
the cords (i.e., arytenoids, aryepiglottic folds ["false
cords"], epiglottis)
Croup: a heterogeneous group of mainly acute and
infectious processes that are characterized by a barklike
or brassy cough and may be associated with
hoarseness, inspiratory stridor, and respiratory distress
Laryngocele: an abnormal air-fil ed dilation of the
laryngeal saccule that arises vertical y between the false
vocal cord, the base of the epiglottic and the inner
surface of the thyroid cartilage
Protracted/Persistent bacterial bronchitis: a chronic (>3
wk) wet cough, characterized by bacterial counts of 10^4
colony-forming units/mL or greater from bronchoalveolar
lavage and resolution of cough within 2 wk of treatment
with antimicrobial therapy
Plastic bronchitis: a condition characterized by recurrent
episodes of airway obstruction secondary to the
formation of large proteinaceous branching casts that
take on the shape of and obstruct the tracheobronchial tree
100
Pulmonary emphysema: distention of air spaces with
irreversible disruption of the alveolar septa, involving a
part or al of a lung
Overinflation: excessive distention of alveoli
with
or
without alveolar rupture and is often reversible
Bronchiolitis obliterans: a chronic obstructive lung disease
of the bronchioles and smal er airways, resulting from an
insult to the lower respiratory tract leading to fibrosis of
the smal airways
Fol icular bronchitis: a lymphoproliferative lung disorder
characterized by the presence of lymphoid fol icles
alongside the airways (bronchi or bronchioles) and
infiltration of the wal s of bronchi and bronchioles
Pulmonary agenesis: the complete absence of a lung
Pulmonary aplasia: the absence of a bronchial stump or
carina
Bronchobiliary fistula: a fistulous connection between the
101
right middle lobe bronchus and the left hepatic ductal
system
Hypereosinophilic syndrome: a group of disorders that are
characterized by the persistent overproduction of
eosinophils accompanied by eosinophil infiltration in
multiple organs with end-organ damage from mediator
release
Hypereosinophilia: an absolute eosinophil number in the
blood 1500/cumm eosinophils on 2 separate occasions
Pneumonia: inflammation of the lung parenchyma
Recurrent pneumonia: 2 episodes in a single yr or 3
episodes ever, with radiographic clearing between
occurrences
Bronchiectasis: a condition characterized by irreversible
abnormal dilation and anatomic distortion of the
bronchial tree and represents a common end stage of a
many nonspecific and unrelated antecedent events
102
Atelectasis: the
incomplete expansion or complete
col apse of airbearing tissue, resulting from obstruction
of air intake into the alveolar sacs
Pleurisy: an inflammation of the pleura
Serofibrinous pleurisy: a fibrinous exudate on the pleural
surface and an exudative effusion of serous fluid into
the pleural cavity
Empyema: an accumulation of pus in the pleural space
Pneumothorax: the accumulation of extrapulmonary air
within the chest, most commonly from leakage of air
from within the lung
Pneumomediastinum: presence of air or gas in the
mediastinum
Hemothorax: an accumulation of blood in the pleural cavity
Chylothorax: a pleural col ection of fluid formed by the
103
escape of chyle from the thoracic duct or lymphatics
into the thoracic cavity
Drowning: death by suffocation after submersion in a liquid
medium
A. Near drowning: a patient recovers, at least temporarily
from the drowning episode
B. Drowning victims: patients who are initial y resuscitated
after submersion but who die within 24 hrs
C. Secondary drowning: patients who have recovered
completely from a submersion injury and are asymptomatic
for a period of time, but who die from respiratory failure
secondary to the episode
Pectus excavatum/Funnel chest: midline narrowing of the
thoracic cavity
Acute lung injury: a syndrome of diffuse pulmonary
inflammation and increased capil ary permeability that
manifests in acute refractory hypoxemia and lung infiltrates
Aerosol: a biphasic system containing a gaseous phase and
a particulate phase
Particle: a body with a defined solid or liquid boundary
104
bordering its gaseous environment
Chest physiotherapy: a spectrum of physical and mechanical
interventions aimed at interacting therapeutical y with acute
and chronic respiratory disorders
Respiratory failure: the impaired ability of the respiratory
system to maintain adequate oxygen and carbon dioxide
homeostasis
Pulmonary edema: the accumulation of abnormal amounts
of fluids in the extravascular spaces of the lung
Acute respiratory distress syndrome: a type of respiratory
failure caused by acute lung inflammation with pulmonary
edema resulting from increased permeability
Vocal resonance: sounds heard over various parts of the
chest during the act of speech
105
16. The Cardiovascular System
Precordium: the area of the anterior chest wal beneath
which the heart lies
Cardiac impulse: the area over which the impact due to
cardiac systole is seen
Apex beat: the lowest and most lateral point at which the
cardiac impulse can be palpated
Arterial pulse: the abrupt expansion of an artery resulting
from the sudden ejection of blood into the aorta and its
transmission throughout the arterial system
Murmur: sound produced by turbulent flow within the heart
and great vessels, and indicating valve disease
Dyspnea: the subjective sensation of shortness of breath
Palpitation: the subjective sensation of one's own heartbeats
106
Thril s: the palpable equivalent of murmurs and correlate
with the area of maximal auscultatory intensity of the
murmur
Arrhythmia: a disturbance in heart rate or rhythm
Sinus bradycardia: a sinus rate <90 beats/min in neonates
and <60 beats/min in older children
Chaotic or multifocal atrial tachycardia: atrial tachycardia
with 3 ectopic P waves, frequent blocked P waves, and
varying P-R intervals of conducted beats
Accelerated junctional ectopic tachycardia: an automatic
(non-reentry) arrhythmia in which the junctional rate
exceeds that of the sinus node and AV dissociation
results
Atrial flutter/Intraatrial reentrant tachycardia: an atrial
tachycardia characterized by atrial activity at a rate of
250-300 beats/min in children and adolescents, and 400-
600 beats/min in neonates
107
Dilated cardiomyopathy: cardiomyopathy characterized
predominantly by left ventricular dilation and decreased
left ventricular systolic function
Hypertrophic cardiomyopathy:cardiomyopathy characterized
predominantly by increased ventricular myocardial wal
thickness, normal or increased systolic function, and
often, diastolic (relaxation) abnormalities
Restrictive cardiomyopathy: cardiomyopathy characterized
predominantly by nearly normal ventricular chamber size
and wal thickness with preserved systolic function, but
dramatical y impaired
diastolic
function
leading
to
elevated fil ing pressures and atrial enlargement
Heart failure: a condition when the heart cannot deliver
adequate cardiac output to meet the metabolic needs of
the body
Hypertension: average systolic blood pressure and/or
diastolic BP that is >95th percentile for age, sex, and
height on 3 occasions
Prehypertension: average
SBP or diastolic BP that
108
are >90th percentile but <95th percentile
White coat hypertension: BP in a child >95th percentile in
a medical setting but normal BP outside of the office
Palpitation: a subjective feeling of rapid heartbeats
Clubbing: a condition characterized
by widening
and
thickening of the ends of the fingers and toes as wel
as by convex fingernails and loss of angle between the
nail and nail bed
Aneurysm: a dilatation of a localised segment of arterial
system
Varicose vein: a dilated and tortuous vein
Pulseless cardiac arrest: the documented cessation of
cardiac mechanical activity, determined by the absence of a
palpable central pulse, unresponsiveness, and apnea
Arterial blood pressure: the force exerted by the blood
against any unit area of the arterial vessel wal
109
17. Diseases of the Blood
Hematopoiesis: the process by which the cel ular
elements of blood are formed
Hemoglobin switching: sequential expression of different
globin genes in RBC precursors
Anemia: a reduction of the hemoglobin concentration or
red blood cel volume below the range of values
occurring in healthy persons
Hemolysis: the premature destruction of red blood cel s
(a shortened RBC life span)
Priapism: an unwanted painful erection of the penis
Thalassemia: a group of genetic disorders of globin
chain production in which there is an imbalance between
the alpha-globin and beta-globin chain production
Pancytopenia: a reduction below normal values of al 3
110
peripheral blood lineages: leukocytes, platelets, and
erythrocytes
Inherited/Constitutional pancytopenia: a
decrease
in
marrow production of the 3 major hematopoietic
lineages that occurs on an inherited basis, resulting in
anemia, neutropenia, and thrombocytopenia
Aplastic anemia: a condition in which 2 blood cel
components have become seriously compromised
Hemostasis: the active process that clots blood in areas
of blood vessel injury yet simultaneously limits the clot
size only to the areas of injury
Hypersplenism: increased splenic function (sequestration
or destruction of circulating cel s)
Lymphangiectasia: dilation of the lymphatics
Lymphangioma circumscriptum: the presence of many
smal , superficial lymphangiomas
111
Lymphangiomatosis: the
presence
of
multiple
or
disseminated malformations
Lymphangioleiomyomatosis: a condition characterized by
proliferation of lymphatic endothelial cel s and smooth
muscle cel s in the lungs, leading to airway and
lymphatic obstruction, cyst formation, pneumothorax, and
respiratory failure
Lymphedema: a localized swel ing caused by impaired
lymphatic flow
Lymphangitis: an inflammation of the lymphatics that drain
an area of infection
Enlarged lymph nodes: lymph nodes of size >1.5 cm for
cervical and axil ary, >1 cm for inguinal region
Generalized lymphadenopathy: enlargement
of
>2
noncontiguous node regions
Porphyrias: acquired
or
inborn
disorders
due
to
abnormalities of specific enzyme mutations in the heme
112
biosynthetic pathway
113
18. Nephrology
Hematuria: the presence of 5 RBC/microlitre of a fresh
uncentrifuged midstream urine specimen or >3 RBC/hpf in
the centrifuged sediment from 10 ml of freshly voided
midstream urine
A. Gross hematuria: >50 RBC/hpf
Urethrorrhagia: urethral bleeding in the absence of urine
Benign familial hematuria: isolated hematuria in multiple
family members without renal dysfunction
Hemorrhagic cystits: the presence of sustained hematuria
and lower urinary tract symptoms (e.g., dysuria,
frequency, urgency) in the absence of other bleeding
conditions such as vaginal bleeding, a generalized
bleeding condition, or a bacterial urinary tract infection
Nephritic syndrome: a clinical syndrome defined by the
association of hematuria, proteinuria, and often hypertension
and renal failure
114
Abnormal proteinuria: excretion of 4-40 mg/m2/hr of
proteins in urine
Nephrotic-range proteinuria: excretion of >40 mg/m2/hr of
proteins in urine or >3.5 g/24 hr or a urine protein/
creatinine ratio >2
Microalbuminuria: the presence of albumin in the urine
above the normal level but below the detectable range
of conventional urine dipstick methods
Nephrotic syndrome: a clinical syndrome characterized by
edema, massive proteinuria (>40 mg/m2/hr) or a urine
protein/creatinine ratio >2, and hypoalbuminemia (<2.5 g/dl)
A. Response: the attainment of remission within the initial
4 wk of corticosteroid therapy
B. Remission: consists of a urine protein/creatinine ratio
of <0.2 or <1+ protein on urine dipstick (for 3
consecutive
days) or urine proteins (<4 mg/m2/hr) in
association with resolution of edema and normalization of
serum albumin (>3.5 g/dl)
C. Relapse: a recurrence of massive proteinuria (>40
mg/m2/hr), urine protein/creatinine ratio of >2 or 3+
protein on urine dipstick testing (for 3 consecutive days),
115
most often in association with edema
D. Steroid sensitive: patients enter remission in response to
corticosteroid treatment alone
E. Steroid resistance: the failure to achieve remission
after 8 wk of corticosteroid therapy
F. Steroid dependent: patients respond to initial
corticosteroid treatment by entering complete remission but
develop a relapse either while stil receiving steroids or
within 2 wks of discontinuation of treatment fol owing a
steroid taper
G. Frequent relapsing: relapses occurring 4 times in a 12
mths period
IgA nephropathy: a glomerular disease characterised by the
presence of IgA deposits prevalent over other classes of
immunoglobulins
Rapildly progressive glomerulonephritis: a clinical syndrome
characterized by a rapid loss of renal function (>50%
decrease in GFR) over days to wks
Crescents: the presence of 2 layers of cel s in Bowman's
space
116
Asymptomatic bacteriuria: a condition in which there is a
positive urine culture without any manifestations of
infection
Ureterocele: a cystic dilation of the terminal ureter
Ectopic ureter: ureter that drains outside the bladder
Nocturnal enuresis: the occurrence of involuntary voiding
at night after 5 yr, the age when volitional control of
micturition is expected
A. Primary enuresis: nocturnal urinary
control
never
achieved
B. Secondary enuresis: the child was dry at night for at
least a few mths and then enuresis developed
Varicocele: a congenital condition in which there is
abnormal dilation of the pampiniform plexus in the
scrotum
Spermatocele: a cystic lesion that contains sperm and is
attached to the upper pole of the sexual y mature testis
117
Hydrocele: an accumulation of fluid in the tunica
vaginalis
Functional urinary incontinence: the involuntary loss of urine
as a result of a failure of control of the bladder-sphincteric
unit
Stress incontinence: the involuntary leakage of urine
occurring when the intravesical pressure exceeds the
bladder outlet or urethral resistance in the absence of
measurable detrusor contraction
Giggle incontinence: involuntary and typical y unpredictable
wetting during or immediately after giggling or laughing
Postvoiding dribbling: the involuntary leakage of urine
immediately after voiding has finished in a toilet trained child
Dysfunctional voiding: incomplete relaxation or involuntary
intermittent contractions of the pelvic floor muscle during
voiding in neurological y intact children
Staccato voiding: interrupted voiding that is caused by
periodic bursts of pelvic floor muscle activities during
118
voiding
Fractionated voiding: several smal , discontinuous voids that
results from poor and unsustained detrusor contractions
characterized by infrequent and incomplete emptying
Vesicoureteral reflux: the retrograde flow of urine from the
bladder to the kidneys
Obstructive uropathy: a restriction of urine flow which, if left
uncorrected, wil lead to progressive renal deterioration or
hamper normal renal development
Ureteropelvic junction obstruction: an impedance in urine
flow from the renal pelvis to the proximal ureter
Oxalosis: extrarenal deposition of calcium oxalate
Urolithiasis: calculi formed in the kidney that may be found
anywhere in the urinary tract as wel as primary bladder
stones
119
Nephrocalcinosis: calcium deposition within the renal
tissue
120
19. Gynecologic Problems of Childhood
Clitoromegaly in newborn: clitoral width >6 mm
Amastia: complete absence of the breast
Polymastia: presence of supernumerary breast tissue
Polythelia: presence of accessory nipples
Primary amenorrhoea: absence of menses within 4 yrs of
onset of puberty
Secondary amenorrhoea: absence of menses for the length
of 3 previous cycles in a postmenarchal patient
Dysmenorrhea: painful uterine cramps that precede and
accompany menses
A. Primary dysmenorrhea: characterized by the absence of
any specific pelvic pathologic condition
B. Secondary dysmenorrhea: due to underlying pathology
such as anatomic abnormality, or infection such as pelvic
inflammatory disease
121
Endometriosis: a condition in which implants of endometrial
tissue are found outside the uterus, most commonly near
the fal opian tubes and ovaries
Rape: penetration of any genital, oral, or anal orifice by a
part of the assailant's body or any object
A. Acquaintance rape: by a person known to the victim
B. Date rape: by a person dating the victim (is often drug
facilitated)
C. Male rape: same-sex rape of male teens by other males
D. Gang rape: group of young men rape a solitary female
victim
E. Statutory rape: sexual activity between an adult and an
adolescent under the age of legal consent, as defined
by individual state law
F. Stranger rape: by a stranger to the victim
Hirsutism: abnormal y increased terminal (mature, heavy,
dark) hair growth in areas of the body where hair
growth is normal y androgen dependent
Hydrocolpos: an accumulation
of
mucus
or
122
nonsanguineous fluid in the vagina
Hemihematometra: atretic
segment of vagina with
menstrual fluid accumulation
Hydrosalpinx: an accumulation of serous fluid in the
fal opian tube, often an end result of pyosalpinx
Didelphic uterus: 2 cervices, each associated with 1
uterine horn
Bicornuate uterus: 1 cervix associated with 2 uterine horns
Unicornuate uterus: result of failure of 1 M?l erian duct
to descend
123
20. The Endocrine System
Hypothyroidism: the deficient
production
of
thyroid
hormone, either from a defect in the gland itself
(primary hypothyroidism) or a result of reduced thyroid-
stimulating
hormone
(TSH)
stimulation (central
or
hypopituitary hypothyroidism)
Goiter/Thyromegaly: an enlargement of the thyroid gland
Hyperthyroidism: excessive secretion of thyroid hormone
Gynecomastia: the proliferation of mammary glandular
tissue in the male
Primary ovarian insufficiency/Hypergonadotropic hypogona-
-dism/Premature ovarian failure: a condition characterized
by the arrest of normal ovarian function before the age
of 40 yr
Disorder of sex development: a condition in which
development of chromosomal, gonadal, or anatomical sex is
atypical
124
Bilateral anorchia/Vanishing testes syndrome: a condition
when testes are absent, but the male phenotype is
complete
Hypopituitarism: underproduction of growth hormone
alone or in combination with deficiencies of other
pituitary hormones
Precocious puberty: the onset of secondary sexual
characteristics before the age of 8 yr in girls and 9 yr in boys
Central precocious puberty: the onset of breast development
before the age of 8 yr in girls and by the onset of testicular
development (volume 4 mL) before the age of 9 yr in boys,
as a result of the early activation of the hypothalamic-
pituitary-gonadal axis
Premature adrenarche: the appearance of sexual hair
before the age of 8 yr in girls or 9 yr in boys without
other evidence of maturation
125
21. The Nervous System
Consciousness: the spontaneously occurring state of
awareness of self and environment
Clouding of consciousness: the minimal reduction of
wakefulness or awareness wherein the main difficulty is
attention or vigilance
Confusion: the state of impaired ability to think and reason
clearly at a developmental y and intel ectual y appropriate
level
Obtundation: mild to moderate alertness reduction with
decreased interest in the environment and slower than
normal reactivity to stimulation
Stupor: a state of unresponsiveness with little or no
spontaneous movement resembling deep sleep from which
the patient can only be aroused by vigorous and repeated
stimulation
126
Coma: a state of deep, unarousable, sustained pathologic
unconsciousness with the eyes closed the results from
dysfunction of the ascending reticular activating system in
the brainstem or in both cerebral hemispheres
Vegetative state: a condition of complete unawareness of
the self and the environment accompanied by sleep-wake
cycles with either complete or partial preservation of
hypothalamic or brainstem autonomic functions
Minimal y conscious state: patients who were in coma or a
vegetative state and who are beginning to demonstrate
minimal signs of awareness
Locked-in syndrome: a condition in which patients retain
consciousness and cognition but are unable to move or
communicate because of severe paralysis
Akinetic mutism: a condition consisting of pathological y
slowed or nearly absent bodily movement accompanied by a
similar loss of speech
Sedation: a medical y induced state that is on a continuum
between the ful y alert, awake state and general anesthesia
127
A. Deep sedation: a state of unarousability to voice and
is accompanied by suppression of reflex responses
B. Conscious sedation: a condition in which a patient is
sleepy, comfortable, and cooperative but maintains airway
-protective and ventilatory reflexes
Concussion: a traumatical y induced transient disturbance
of
brain
function
that
involves
a
complex
pathophysiologic process which may be caused either by
a direct blow to the head, face, neck, or elsewhere on
the body with an "impulsive" force transmitted to the
head, whether these are linear or rotational forces
Lucid interval: a period of clinical improvement after an initial
loss of consciousness, fol owed by deterioration within mins
to hrs
Cerebral reperfusion injury: a complex series of interactions
between the brain parenchyma and microcirculation that
results in detrimental effects that negate some of the
benefits of reperfusion
Atrophy of muscle: decreased muscle bulk
128
Hypertrophy of muscle: increased muscle bulk
Pseudohypertrophy of muscle: muscle tissue that has been
replaced by fat and connective tissue, giving it a bulky
appearance with a paradoxical reduction in strength
Paresis: feeble power of contraction of a muscle group due
to weakness of the muscle
Paralysis: loss of power of a muscle group resulting in
absence of contraction of those muscle
Muscle
tone: an
unconscious,
continuous,
partial
contraction of muscle, creating resistance to passive
movement of a joint
A. Passive tone: range of motion around a joint
B. Active tone: physiologic resistance to movement
Spasticity: a condition characterized
by
an
initial
resistance to passive movement
Rigidity: a condition characterized by resistance to passive
129
movement that is equal in the flexors and extensors
regardless of the velocity of movement. It is felt
throughout the passive movement
Opisthotonos: severe hyperextension of the spine caused
by hypertonia of the paraspinal muscles
Hypotonia: abnormal y diminished tone
Fasciculations: smal , involuntary muscle contractions that
result from the spontaneous discharge of a single motor
unit
Ataxia: a disturbance in the smooth performance of
voluntary motor acts
Abasia: unsteadiness of stance
Asynergia: decomposition of complex movements into
isolated , successive parts
Dysmetria: errors in judging distance
130
Rebound: inability to inhibit a muscular action
Dysdiadochokinesia: impaired
performance
of
rapid
alternating movements
Titubation: a bobbing of the head predominantly in the
anteroposterior dimension
Electroencephalogram (EEG): a continuous recording of
electrical activity between reference electrodes placed on
the scalp
Lissencephaly/Agyria: a disorder that is characterized by
the absence of cerebral convolutions and a poorly
formed sylvian fissure
Schizencephaly: the presence of unilateral or bilateral
clefts within the cerebral hemispheres owing to an
abnormality of morphogenesis
Polymicrogyria: a condition characterized
by
an
augmentation of smal
convolutions separated by
shal ow enlarged sulci
131
Porencephaly: the presence of cysts or cavities within
the brain that result from developmental defects or
acquired lesions, including infarction of tissue
Colpocephaly: an abnormal enlargement of the occipital
horns of the ventricular system
Holoprosencephaly: a developmental disorder of the brain
that results
from
defective
formation
of
the
prosencephalon
and inadequate induction of forebrain
structures
Microcephaly: a head circumference that measures >3 SD
below the mean for age and sex
Hydrocephalus: a diverse group of conditions that result
from impaired circulation and/or absorption of CSF or, in
rare circumstances, from increased production of CSF
by a choroid plexus papil oma
Megalencephaly: an anatomic disorder of brain growth
with brain weight/volume ratio >98th percentile for age
(or 2 SD above the mean)
132
Macrocephaly: an occipitofrontal
circumference
>98th
percentile
Hydranencephaly: condition when cerebral hemispheres are
absent or represented by membranous sacs with
remnants of frontal, temporal, or occipital cortex dispersed
over the membrane
Craniosynostosis: premature
closure of the cranial
sutures
A. Primary craniosynostosis: due to closure of 1 sutures
owing to abnormalities of skul development
B. Secondary craniosynostosis: due to failure of brain
growth and expansion
Scaphocephaly: premature closure of the sagittal suture
producing a long and narrow skul
Frontal plagiocephaly: premature fusion of a coronal and
sphenofrontal suture characterized by unilateral flattening of
the forehead, elevation of the ipsilateral orbit and eyebrow,
and a prominent ear on the corresponding side
133
Occipital plagiocephaly: flattening of the occiput
Trigonocephaly: premature fusion of the metopic suture
characterised by a keel-shaped forehead and hypotelorism
Turricephaly: a cone-shaped head from premature fusion of
the coronal, and often sphenofrontal and frontoethmoidal
sutures
Plagiocephaly: a condition in which head shape is
asymmetric in the sagittal or coronal plane that can result
from asymmetry in suture closure or from asymmetry of
brain growth
Deformational/Positional plagiocephaly: the development
of cranial flattening and asymmetry in the infant as a
result of extrinsic molding forces placed on the skul ,
such as consistently sleeping on the same area of the
head
Brachycephaly: a condition in which head shape is shortened
from front to back along the sagittal plane; the back of the
skul and face are flatter than normal
134
Scaphocephaly/Dolicocephaly: a condition in which the head
is elongated from front to back in the sagittal plane
Muscular torticol is: a continuous tightening of muscles in
the neck preventing passive rotation
Tummy time: infant's awake time spent lying on their
stomach
Seizure: a
transient
occurrence
of
signs
and/or
symptoms
resulting from
abnormal
excessive
or
synchronous neuronal activity in the brain
A. Tonic seizures: characterized by increased tone or
rigidity
B. Atonic seizures: characterized by flaccidity or lack of
movement during a convulsion
C. Clonic seizures: rhythmic fast muscle contractions and
slightly longer relaxations
D. Myoclonus: a "shock-like" contraction of a muscle of
<50 msec that is often repeated
E. Astatic seizures: a very momentary loss of tone with
a sudden fal
135
Epilepsy: a disorder of the brain characterized by an
enduring predisposition to generate seizures and by the
neurobiologic,
cognitive, psychologic,
and
social
consequences of this condition
Epileptic syndrome: a disorder that manifests 1 specific
seizure types and has a specific age of onset and a
specific prognosis
Epileptic encephalopathy: an epilepsy syndrome in which
there is a severe EEG abnormality which is thought to result
in cognitive and other impairments in the patient
Genetic epilepsy: epilepsy syndrome which is the direct
result of a known or presumed genetic defect(s) in which the
genetic defect is not causative of a brain structural or
metabolic disorder other than the epilepsy
Febrile seizures: seizures that occur between the age of
6 and 60 mths with a temperature 38?C (100.4?F), that
are not the result of central nervous system infection or
any metabolic imbalance, and that occur in the absence
of a history of prior afebrile seizures
136
Vaccine
encephalopathy: seizures
and
psychomotor
regression occurring after vaccination and presumed to
be caused by it
Aura: sensory experience reported by the patient; not
observed external y
Head drop: loss of tone or myoclonus in only the neck
muscles resulting in a milder seizure
Epileptic spasms/Axial spasms: flexion or extension of
truncal and extremity musculature that is sustained for 1
-2 sec, shorter than what is seen in tonic seizures, which
last >2 sec
Epilepsia partialis continua: focal motor clonic and/or
myoclonic seizures that persist for days, mths, or even
longer
Absence seizures: generalized seizures consisting of
staring, unresponsiveness, and eye flutter lasting usual y
for few secs
A. Typical
absences: associated
with
3
Hz
137
spike?and?slow-wave discharges
B. Atypical
absences: associated
with
1-2
Hz
spike?and?slow-wave discharges, and with head atonia
and myoclonus during the seizures
C. Juvenile absences: associated with 4-5 Hz spike-and-
slow waves and occur in juvenile myoclonic epilepsy
Automatisms: automatic semipurposeful movements of
the mouth (oral, alimentary such as chewing) or of the
extremities (manual, such as manipulating the sheets;
leg automatisms such as shuffling, walking)
Epileptogenesis: the mechanism through which the brain,
or part of it, turns epileptic
Kindling: an animal model for human focal epilepsy in
which repeated electrical stimulation of selected areas of
the brain with a low-intensity current initial y causes no
apparent changes but with repeated stimulation results
in epilepsy
Spasms: sudden generalized jerks lasting 1-2 sec that
are usual y associated with a single, very brief, generalized
discharge
138
Jitteriness: rapid motor activities, such as a tremor or shake,
that can be ended by flexion or holding the limb
Status epilepticus: a condition resulting either from failure of
the mechanism responsible for seizure termination or from
the initiation of mechanisms which lead to abnormal y
prolonged seizures (after time point t1). It is a condition that
can have long term consequences (after time pont t2),
including neuronal death, neuronal injury, and alteration of
neuronal networks, depending on the type and duration of
seizures
t1 (treatment started):
tonic clonic= 5 min;
focal with impaired consciousness= 10 min;
absence= 15 min.
t2 (consequences expected):
tonic clonic= 30 min;
focal with impaired consciousness >60 min
absence= unknown
A. Prodromal/Incipient/Impending status epilepticus: first 5
min
B. Early status epilepticus: 5-10 min
139
C. Established status epilepticus: > 30 min
D. Refractory status epilepticus: persistent seizures despite
2-3 appropriate doses of antiepileptics
Anoxic seizures: generalised convulsions due to syncope
causing drop attacks
Shuddering attacks: rapid tremor of the head, shoulder,
and trunk, lasting a few secs, often associated with
eating, and recurring many times a day
Hyperekplexia/Stiff baby syndrome: a disorder with
neonatal onset of life-threatening episodes of tonic
stiffening that precipitate apnea and convulsive hypoxic
seizures
Motor tics: movements that are under partial control, and
are associated with an urge to do them and with a
subsequent relief
Stereotypies: repetitive movements that are more complex
than tics and do not change and wax and wane like tics (e.g.,
head banging, head rol ing, body rocking, and hand clapping),
140
usual y occur in neurological y impaired children
Mannerism: a pattern of social y acceptable, situational
behavior that is seen in particular situations such as
gesturing when talking
Fussiness: a state of irritability that is not easily
explained by a cause, such as tiredness, hunger,
teething or pain from an injury
Migraine: recurrent headache characterized by episodic
attacks that may be moderate to severe in intensity, focal in
location on the head, have a throbbing quality, and may be
associated with nausea, vomiting, light sensitivity, and sound
sensitivity
Status migrainosus: migraine lasting for >72 hrs
Movement disorders: abnormal or excessive involuntary
movements that may result in abnormalities in posture,
tone, balance, or fine motor control
Tremor: oscil ating, rhythmic movements about a fixed
141
point, axis, or plane
A. Rest tremor: maximal when the affected body part is
inactive and supported against gravity
B. Postural tremor: notable when the patient sustains a
position against gravity
C. Action tremor: seen with performance of a voluntary
activity and can be subclassied into simple kinetic
tremor, which occurs with limb movement, and intention
tremor, which occurs as the patient's limb approaches a
target
D. Essential tremor: characterized by a slowly progressive,
bilateral, 4-9 Hz postural tremor that involves the upper
extremities and occurs in the absence of other known
causes of tremor
E. Holmes/Midbrain/Rubral tremor: characterized by a
slow frequency, high amplitude tremor that is present at
rest and with intention
Dystonia: intermittent and sustained involuntary muscles
contractions that produce abnormal postures and
movements of different parts of the body, often with a
twisting quality
Chorea: involuntary, continual, irregular movements or
142
movement fragments with variable rate and direction
that occur unpredictably and randomly
Bal ism: involuntary, high amplitude, flinging movements
typical y occurring proximal y
Athetosis: slow,
writhing,
continuous,
involuntary
movements
Posture: position of the different body parts adopted in
relation to one another and in relation to surrounding
Decubitus: position adopted during lying down
Gait: position adopted while walking
Encephalopathy: a
generalized disorder of cerebral
function that may be acute or chronic, progressive, or
static
Cerebral palsy: a group of permanent disorders of
movement and posture causing activity limitation, that
143
are attributed to nonprogressive disturbances in the in
the developing fetal or infant brain
Spastic diplegia: bilateral spasticity of the legs that is
greater than in the arms
Spastic quadriplegia: marked motor impairment of al
extremities
Acquired demyelinating disorders of the central nervous
system: conditions resulting from neurologic dysfunction
caused by immune-mediated attacks on white matter
insulating the brain, optic nerves and spinal cord
Multiple sclerosis: a chronic demyelinating disorder of the
brain, spinal cord, and optic nerves characterized by a
relapsing?remitting course of neurologic events without
encephalopathy separated in time and space
Neuromyelitis opica/Devic
disease: a
demyelinating
disorder characterized by monophasic or polyphasic
episodes of optic neuritis and/or transverse myelitis
144
Acute
disseminated
encephalomyelitis:
an
initial
inflammatory,
demyelinating
event
with
multifocal
neurologic
deficits,
typical y
accompanied
by
encephalopathy
Idiopathic intracranial hypertension/Pseudotumor cerebri: a
clinical syndrome that mimics brain tumors and is
characterized by increased intracranial pressure 280
mm Hg in sedated or obese children; 250 mm Hg in
nonobese,
nonsedated
children
with a
normal
cerebrospinal fluid cel count and protein content and
normal to slightly decreased ventricular size, and normal
ventricular anatomy and position documented by MRI
Diastematomyelia: a form of occult dysraphism in which
the spinal cord is divided into 2 halves
Syringomyelia: a cystic distention of the spinal cord
caused by obstruction of the flow of spinal fluid from
within the spinal cord to its point of absorption
Syringobulbia: a slowly progressive cavity formation within
the medul a oblongata, associated with gliosis
145
Hydromyelia: a congenital deformity resulting from
distension of the central canal of spinal cord, which in turn
compresses the surrounding cord structures, including the
anterior horn cel s
Transverse myelitis: a condition characterized by rapid
development of both motor and sensory deficits at any level
of the spinal cord with evidence of spinal cord inflammation
by an MRI-documented enhancing lesion, or CSF pleocytosis
(>10 cel s), or increased immunoglobulin G index
Neuromuscular disease: disorders of the motor unit and
excludes influences on muscular function from the brain,
such as spasticity
Benign congenital hypotonia: nonprogressive hypotonia of
unknown origin
Muscular
dystrophy: a condition which is a primary
myopathy, has a genetic basis, the course is progressive,
and degeneration and death of muscle fibers occur at
some stage
Inflammatory myopathies: a heterogenous group of
146
disorders characterised pathological y by inflammation in
skeletal muscle with resulting muscle fibre damage and
subsequent clinical weakness
Myotonia: a very slow relaxation of muscle after
contraction, regardless of whether that contraction was
voluntary or was induced by a stretch reflex or electrical
stimulation
Myotonia congenita/Thomsen disease: a channelopathy
characterized by weakness and generalized muscular
hypertrophy
Paramyotonia: a temperature-related myotonia that is
aggravated by cold and al eviated by warm external
temperatures
Myasthenia gravis: a chronic autoimmune disease of
neuromuscular blockade, characterized clinical y by rapid
fatigability of striated muscle, particularly extraocular and
palpebral muscles and those of swal owing
Myasthenic crisis: an acute or subacute severe increase
in weakness in patients with myasthenia gravis, usual y
147
precipitated by an intercurrent infection, surgery, or even
emotional stress
Bel palsy: an acute unilateral peripheral facial nerve
palsy
that
is
not associated
with
other
cranial
neuropathies or brainstem dysfunction
Paraesthesia: altered sensations felt in the form of pins and
needles, tingling and numbness etc.
Hyperaesthesia: hypersensitive skin to normal stimuli
Hypoaesthesia: decreased feeling of sensation
Anaesthesia: total loss of sensation of the affected part
Pain: a complex sensation triggered by actual or potential
tissue damage and influenced by cognitive, behavioral,
emotional, social, and cultural factors
A. Somatic pain: pain resulting from injury to or
inflammation of tissues (skin, muscle, tendons, bone,
joints, fascia, vasculature, etc.)
148
B. Visceral pain: pain resulting from injury to or
inflammation of viscera
C. Neuropathic pain: pain resulting
from
injury
to,
inflammation of, or dysfunction of the peripheral or
central nervous systems
D. Chronic pain: recurrent or persistent pain lasting
longer than the normal tissue healing time, approximately
3-6 mths
Tenderness: pain which occurs in response to a stimulus
given by somebody
Root pain: spontaneous severe pain due to disease process
involving the root fibres
Referred pain: a pain arising from a visceral organ projected
to a definite site on the surface of the body, away from
anatomical situation of the organ
Complex regional pain syndrome: a condition characterized
by ongoing burning limb pain that is subsequent to an
injury, immobilization, or another noxious event affecting
149
the extremity
Dermatome: the area of skin innervated by a single spinal
segment
Al odynia: a heightened pain response to normal y non-
noxious stimuli
Hyperalgesia: exaggerated
pain reactivity to noxious
stimuli
Guil ain-Barr? syndrome: an acute demyelinating disease
of the peripheral nervous system characterized clinical y
by acute flaccid paralysis
Breath holding: voluntary holding of breath by a child in
prolonged inspiration
Bacterial meningitis: an inflammation of the leptomeninges
triggered by bacteria in the subarachnoid space
Meningismus: tense neck and back muscles as a reflex to
150
avoid painful extension of inflamed meninges
Stroke: the sudden occlusion or rupture of cerebral arteries
or veins resulting in focal cerebral damage and clinical
neurologic deficits
Bland infarct: infarct without any visible hemorrhage
Muscle twitch: a transient contraction of the muscle fibres
of a motor unit by a single action potential of the neuron
Topagnosis: the ability to localize the area of contact of a
tactile stimulus
Stereognosis: recognition of familiar objects by touch
Graphesthesia: the ability to recognize numbers, letters, or
other readily identifiable symbols traced on the skin
Two-point discrimination: the ability to distinguish between
closely approximated stimulation at two points
151
Ageusia: a complete loss of gustatory function
Dysgeusia: distortion in the perceived qualities of a taste
stimulus
Phantogeusia: the experience of a taste sensation in the
apparent absence of a gustatory stimulus
Anosmia: the complete absence of olfactory functioning
Specific anosmia: a deficit in perception of only a specific
odorous compound
Hyperosmia: an increased sensitivity to smel
Dysosmia/Parosmia: distortions in the perceived qualities of
the odor stimulus in the presence of an odor
Phantosmia: perception of an odor when there is no odor
present
152
Mental retardation: a disability characterised by a significant
limitation both in intel ectual functioning and in adaptive
behaviour as expressed in conceptual, social, practical, and
adaptive skil s
Aphasia: disorder of speech due to injury to higher centres
A. Sensory aphasia: inability to understand the spoken words
or written words
B. Motor aphasia: inability to express thoughts by writing or
speaking
Agraphia: selective loss to writing ability, spontaneous or
dictation
153
22. Disorders of the Eye
Refraction: the focusing power of the eye
Tonometry: the method of assessing intraocular pressure
Emmetropia: the state in which paral el rays of light
come to focus on the retina with the eye at rest
(nonaccommodating)
Hyperopia/Far sightedness: paral el rays of light come to
focus posterior to the retina with the eye in a neutral
state
Myopia/Near sightedness: paral el rays of light come to
focus anterior to the retina with the eye in a neutral
state
Astigmatism: the refractive powers of the various
meridians of the eye differ
Anisometropia: refractive state of one eye is significantly
154
different from the refractive state of the other eye
Amblyopia: decrease in visual acuity, unilateral or
bilateral, that occurs in visual y immature children as a
result of a lack of a clear image projecting onto the
retina
A. Strabismic amblyopia: the unformed retinal image may
occur secondary to a deviated eye
B. Anisometropic amblyopia: an unequal need for vision
correction between the eyes
C. Ametropic amblyopia: a high refractive error in both
eyes
D. Deprivation amblyopia: a media opacity within the visual
axis
Amaurosis: partial or total loss of vision
Nyctalopia/Night blindness: vision that is defective in
reduced il umination
Coloboma of iris: developmental defect may present as a
defect in a sector of the iris, a hole in the substance of
the iris, or a notch in the pupil ary margin
155
Microcoria/Congenital miosis: a smal pupil that does not
react to light or accommodation and that dilates poorly,
if at al , with medication
Congenital mydriasis: the pupils appear dilated, do not
constrict significantly to light or near gaze, and respond
minimal y to miotic agents
Dyscoria: abnormal shape of the pupil
Corectopia: abnormal pupil ary position
Anisocoria: inequality of the pupils
Tonic pupil: typical y a large pupil that reacts poorly to
light (the reaction may be very slow or essential y nil),
reacts poorly and slowly to accommodation, and
redilates in a slow, tonic manner
Heterochromia iridum: the 2 irides are of different color
Heterochromia iridis: a portion of an iris differs in color
156
from the remainder
Strabismus/Squint: misalignment of the eye
Orthophoria: the ideal condition of exact ocular balance.
It implies that the oculomotor apparatus is in perfect
equilibrium so that the eyes remain coordinated and
aligned in al positions of gaze and at al distances
Heterophoria: a latent tendency for the eyes to deviate
which is normal y control ed by fusional mechanisms that
provide binocular vision or avoid diplopia
Heterotropia: a misalignment of the eyes that is constant.
It occurs because of an inability of the fusional mechanism
to control the deviation
Accommodative esotropia: convergent deviation of the
eyes associated with activation of the accommodative
(focusing) reflex
Nystagmus: rhythmic oscil ations of 1 or both eyes
157
A. Latent nystagmus: conjugate jerk nystagmus toward
viewing eye
B. Manifest latent nystagmus: fast jerk to viewing eye
C. Periodic alternating: cycles of horizontal or horizontal-
rotary that change direction
D. Seesaw nystagmus: one eye rises and intorts as other eye
fal s and extorts
E. Nystagmus retractorius: eyes jerk back into orbit or
toward each other
F. Gaze-evoked nystagmus: jerk nystagmus in direction of
gaze
G. Gaze-paretic nystagmus: eyes jerk back to maintain
eccentric gaze
H. Downbeat nystagmus: fast phase beating downward
I. Upbeat nystagmus: fast phase beating upward
J. Vestibular nystagmus: horizontal-torsional or horizontal
jerks
K. Asymmetric or monocular nystagmus: pendular vertical
nystagmus
L. Spasmus nutans: fine, rapid, pendular nystagmus
Opsoclonus: multidirectional conjugate movements of
varying rate and amplitude
158
Ocular dysmetria: overshoot of eyes on rapid fixation
Ocular flutter: horizontal oscil ations with forward gaze
and sometimes with blinking
Ocular bobbing: downward jerk from primary gaze,
remains for a few sec, then drifts back
Ocular myoclonus: rhythmic
to-and-fro
pendular
oscil ations of the eyes, with synchronous nonocular
muscle movement
Ptosis: drooping of upper eyelid below the normal level
Epicanthal folds: vertical or oblique folds of skin
extending on either side of the bridge of the nose from
the brow or lid area, covering the inner canthal region
Lagophthalmos: a condition in which complete closure of
the lids over the globe is difficult or impossible
Ectropion: eversion of the lid margin
159
Entropion: inversion of the lid margin
Epiblepharon: a rol of skin beneath the lower eyelid
lashes causing the lashes to be directed vertical y and
to touch the cornea
Trichiasis: inward turning of the eyelashes
Blepharospasm: spastic or repetitive closure of the
eyelids
Blepharitis: inflammation of the lid margins characterized
by erythema and crusting or scaling
Internal hordeolum: acute bacterial infection of the
Meibomian glands
External hordeolum/Stye: acute bacterial infection of the
Zeis/ Mol glands
Chalazion: granulomatous inflammation of a Meibomian
gland characterized by a firm, nontender nodule in the
160
upper or lower lid
Coloboma of the eyelid: cleft-like deformity may vary from
a smal indentation or notch of the free margin of the
lid to a large defect involving almost the entire lid
Dacryocystocele/Mucocele: an unusual presentation of a
nonpatent nasolacrimal sac that is obstructed both
proximal y and distal y
Alacrima/Dry eye: a wide spectrum of disorders with
reduced or absent tear secretion
Pinguecula: a yel owish-white, slightly elevated mass on
the bulbar conjunctiva, usual y in the interpalpebral region
Pterygium: a fleshy triangular conjunctival lesion that
may encroach on the cornea
Symblepharon: a
cicatricial
adhesion
between
the
conjunctiva of the lid and the globe
161
Megalocornia: nonprogressive
symmetric
condition
characterized by an enlarged cornea (>12 mm in
diameter) and an anterior segment in which there is no
evidence of previous or concurrent ocular hypertension
Microcornea/Anterior microphthalmia: an abnormal y smal
cornea in an otherwise relatively normal eye
Keratoconus: progressive thinning and bulging of the
central cornea, which becomes cone shaped
Peters anomaly: a central corneal opacity (leukoma) that
is present at birth
Hypopyon: pus in the anterior chamber
Phlyctenules: smal , yel owish, slightly elevated lesions
usual y located at the corneal limbus; they may encroach
on the cornea and extend central y
Interstitial keratitis: nonulcerative inflammation of the
corneal stroma
162
Cataract: any opacity of the lens
Microspherophakia: a smal , round lens
Anterior lenticonus: bilateral condition in which the
anterior capsule of the lens thins, al owing the lens to
bulge forward central y
Posterior lenticonus: a condition characterized
by
a
circumscribed round or oval bulge of the posterior lens
capsule and cortex, involving the central region of the
lens
Uveitis: inflammation of the uveal tract (the inner vascular
coat of the eye, consisting of the iris, ciliary body, and
choroid)
Choroiditis: inflammation of the posterior portion of the
uveal tract
Panophthalmitis: inflammation involving al parts of the eye
163
Sympathetic ophthalmia: an inflammatory response that
affects the uninjured eye after a perforating injury
Retinitis pigmentosa: progressive
retinal
degeneration
characterized
by
pigmentary changes,
arteriolar
attenuation, usual y some degree of optic atrophy, and
progressive impairment of visual function
Retinal detachment: a separation of the outer layers of
the retina from the underlying retinal pigment epithelium
Hypoplasia of the optic nerve: a nonprogressive condition
characterized by a subnormal number of optic nerve
axons with normal mesodermal elements and glial
supporting tissue
Morning glory disc anomaly: congenital malformation of
the optic nerve characterized by an enlarged, excavated,
funnel-shaped disc with an elevated rim, resembling a
morning glory flower
Tilted disc: congenital anomaly in which the vertical axis
of the optic disc is directed obliquely, so that the upper
temporal portion of the nerve head is more prominent
164
and anterior to the lower nasal portion of the disc
Papil edema: swel ing of the nerve head secondary to
increased intracranial pressure
Optic neuritis: inflammation or demyelinization of the
optic nerve with attendant impairment of function
Optic atrophy: degeneration of optic nerve axons, with
attendant loss of function
Glaucoma: damage to the optic nerve with visual field loss
that is caused by or related to elevated pressure within the
eye
A. Primary glaucoma: the cause is an isolated anomaly of
the drainage apparatus of the eye (trabecular meshwork)
B. Secondary glaucoma: other ocular or systemic
abnormalities are associated
Hypertelorism: wide separation of the eyes or an
increased interorbital distance
165
Hypotelorism: narrowness of the interorbital distance
Exophthalmos/Proptosis: protrusion of the eye
Enophthalmos: posterior displacement or sinking of the
eye back into the orbit
Dacryoadenitis: inflammation of the lacrimal gland
Dacryocystitis: infection of the lacrimal sac
Periorbital/Preseptal cel ulitis: inflammation of the lids
and periorbital tissues without signs of true orbital
involvement (such as proptosis or limitation of eye
movement)
Orbital cel ulitis: condition involving inflammation of the
tissues of the orbit, with proptosis, limitation of
movement of the eye, edema of the conjunctiva
(chemosis), and inflammation and swel ing of the eyelids
with potential y decreased visual acuity
166
Hyphema: the presence of blood in the anterior chamber
of the eye
Open globe: penetrating, perforating, or blunt injury
resulting in compromise of the cornea or sclera of the
eye
Diplopia: perception of two images when only one object is
present
167
23. The Ear
Dizziness: a sensation of altered orientation in space
Vertigo: a type of dizziness associated with any il usion or
sensation of motion
Congenital cholesteatoma: a nonneoplastic, destructive,
cystic lesion that usual y appears as a white, round, cyst
-like structure medial to an intact tympanic membrane
Conductive hearing loss: hearing loss resulting from
pathologic conditions in the external ear canal, tympanic
membrane, or middle ear
Sensorineural hearing loss: hearing loss due to damage or
malfunction of cochlea or the auditory nerve
Exostoses: benign hyperplasia of the perichondrium and
underlying bone
168
24. The Skin
Macule: an alteration in skin color but cannot be felt, <1
cm size
Patch: an alteration in skin color but cannot be felt, >1
cm size
Papules: palpable solid lesions <1 cm
Plaques: palpable lesions >1 cm in size and have a flat
surface
Nodules: palpable lesions >1 cm with a rounded surface
Tumour/Neoplasm: a growth of new cel s which proliferate
independent of the need of the body
Vesicles: raised, fluid-fil ed lesions <1 cm in diameter
Bul ae: raised, fluid-fil ed lesions >1 cm in diameter
169
Pustules: lesions containing purulent material
Wheals: flat-topped, palpable lesions of variable size,
duration, and configuration that represent dermal
col ections of edema fluid
Cysts: circumscribed, thick-wal ed lesions covered by a
normal epidermis and contain fluid or semisolid material
Scales: compressed layers of stratum corneum cel s that
are retained on the skin surface
Purpura: lesions on skin as the result of bleeding into the
skin and have a red-purple color; they may be flat or
palpable
Petechiae: smal purpura <2-3 mm
Erosions: focal loss of the epidermis which heals without
scarring
Ulcer: a break in the continuity of the covering epithelium
170
(skin or mucous membrane), extending into the dermis and
tend to heal with scarring
Excoriations: ulcerated lesions inflicted by scratching,
often linear or angular in configuration
Fissures: lesions caused by splitting or cracking
Crusts: lesions consisting
of
matted, retained
accumulations of blood, serum, pus, and epithelial debris
on the surface of a weeping lesion
Scars: end-stage lesions that can be thin, depressed, and
atrophic; raised and hypertrophic; or flat and pliable
Lichenification: a thickening of skin with accentuation of
normal skin lines that is caused by chronic irritation
(rubbing, scratching) or inflammation
Sebaceous hyperplasia: min, profuse, yel ow-white papules
that are frequently found on the forehead, nose, upper lip,
and cheeks of a term infant; representing hyperplastic
sebaceous glands
171
Milia: superficial epidermal inclusion cysts that contain
laminated keratinized material
Sucking blisters: solitary or scattered superficial bul ae
present at birth on the upper limbs of infants at birth
are presumably induced by vigorous sucking on the
affected part in utero
Cutis marmorata/Livido reticularis: an evanescent, lacy,
reticulated red and/or blue cutaneous vascular pattern
appearing over most of the body surface, when a
newborn infant is exposed to low environmental
temperatures
Nevus simplex: a smal , pale pink, il -defined, vascular
macule that occurs most commonly on the glabel a,
eyelids, upper lip, and nuchal area
Dermal melanocytosis/Mongolian spots: blue or slate-gray
macular lesions, with variably defined margin
Erythema toxicum: benign,
self-limited,
evanescent
eruption
172
Eosinophilic pustular fol iculitis: recurrent crops of pruritic,
coalescing, fol icular papulopustules on the face, trunk,
and extremities
Skin dimples: cutaneous
depressions
over
bony
prominences and in the acral area, at times associated
with pits and creases
Aplasia cutis congenita/Congenital absence of skin:
developmental absence of skin usual y noted on the
scalp as multiple or solitary (70%), noninflammatory, wel
-demarcated, oval or circular 1-2 cm ulcers
Ectodermal
dysplasia: a
heterogeneous
group
of
disorders characterized by a constel ation of findings
involving defects of 2 of the fol owing: teeth, skin, and
appendageal structures including hair, nails, and eccrine
and sebaceous glands
Angiokeratomas: lesions characterized by ectasia of
superficial
lymphatic
vessels
and
capil aries
with
hyperkeratosis of the overlying epidermis
Spider angioma/Vascular spider/Nevus araneus: lesion
173
with a central feeder artery with many dilated radiating
vessels and a surrounding erythematous flush, varying
from a few mil imeters to several centimeters in
diameter
Nevus skin lesions: lesions characterized histopathologica-
-l y by col ections of wel -differentiated cel
types
normal y found in the skin
Melanocytic nevus: a benign cluster of melanocytic
nevus cel s that arises as a result of alteration and
proliferation of melanocytes at the epidermal?dermal
junction
Ephelides: are light or dark brown, round, oval or
irregularly shaped, wel -demarcated, macules usual y <3
mm in diameter that occur in sun-exposed areas such
as the face, upper back, arms, and hand
Lentigines: are smal (<3 cm), round, dark brown macules
that can appear anywhere on the body with an early age
of onset
Caf?-au-lait spots: uniformly hyperpigmented, sharply
174
demarcated macular lesions, the hues of which vary with
the normal degree of pigmentation of the individual: they
are tan or light brown in white individuals and may be
dark brown in black children
Congenital oculocutaneous albinism: partial or complete
failure of melanin production in the skin, hair, and eyes
despite the presence of normal number, structure, and
distribution of melanocytes
Piebaldism: condition characterized by sharply demarcated
amelanotic patches that occur most frequently on the
forehead, anterior scalp (producing a white forelock),
ventral trunk, elbows, and knees
Vitiligo: macular depigmentation associated with the
destruction of melanocytes
Eczematous skin disorders: a broad group of cutaneous
eruptions characterized by erythema, edema, and pruritus
Diaper dermatitis: any rash in the diaper region
175
Photosensitivity: a qualitatively or quantitatively abnormal
cutaneous reaction to sunlight or artificial light because
of UV radiation
Psoriasis: an inflammatory autoimmune-related disease
characterized by
inflammation
and
keratinocyte
proliferation
Keratosis pilaris: a common papular eruption resulting
from keratin plugging of hair fol icles
Acanthosis nigricans: lesions characterized by symmetric,
hyperpigmented, velvety, hyperkeratotic plaques with
exaggerated skin lines in intertriginous areas
Keloid: a sharply demarcated, benign, dense growth of
connective tissue that forms in the dermis after trauma
Hyperhidrosis: excessive
sweating
beyond
what
is
physiological y necessary for temperature control
Miliaria: retention of sweat in occluded eccrine sweat
ducts
176
Hypertrichosis: excessive hair growth at inappropriate
locations
Hypotrichosis: deficient hair growth
Trichotil omania: visible hair loss attributable to pul ing;
mounting tension preceding hair pul ing; gratification or
release of tension after hair pul ing; and absence of hair
pul ing attributable to hal ucinations, delusions, or an
inflammatory skin condition
Anonychia: absence of the nail plate, usual y a result of a
congenital disorder or trauma
Koilonychia: flattening and concavity of the nail plate with
loss of normal contour, producing a spoon-shaped nail
Leukonychia: a white opacity of the nail plate that may
involve the entire plate or may be punctate or striate
Onycholysis: separation of the nail plate from the distal
nail bed
177
Beau lines: transverse grooves in the nail plate that
represent a temporary disruption of formation of the nail
plate
Trachyonychia: characterized
by
longitudinal
ridging,
pitting, fragility, thinning, distal notching, and opalescent
discoloration of al the nails
Ingrown nail: condition when the lateral edge of the nail,
including spicules that have separated from the nail
plate, penetrates the soft tissue of the lateral nail fold
Angular cheilitis/Perl?che: inflammation and fissuring at
the corners of the mouth, often with associated erosion,
maceration, and crusting
Fordyce spots/granules: asymptomatic, 1-3 mm, yel ow
white macules and papules on the vermilion lips and
buccal mucosa
Epstein pearls/Gingival cysts of the newborn: white, keratin-
containing epidermal inclusion cysts on the palatal or
alveolar mucosa
178
Geographic tongue/Benign migratory glossitis: consists of
single or multiple sharply demarcated, irregular, smooth
red patches surrounded by an elevated yel owish white
serpiginous border on the dorsum of the tongue
Cel ulitis: infection and inflammation of loose connective
tissue, with limited involvement of the dermis and
relative sparing of the epidermis
Necrotizing fasci tis: a subcutaneous tissue infection that
involves the deep layer of supercial fascia but may
spare adjacent epidermis, deep fascia, and muscle
Blistering distal dactylitis: a superficial blistering infection
of the volar fat pad on the distal portion of the finger
or thumb
Tinea corporis: infection of the glabrous skin, excluding
the palms, soles, and groin
Lump: a vague mass of body tissue
Swel ing: any enlargement or protuberance in the body
179
Haemangioma: a vascular malformation or hamartoma
arising from a capil ary, vein or artery
Abscess: a col ection of pus
Boil/Furuncle: an infection of a hair fol icle
Papil oma: a simple overgrowth of al layers of the skin
Fibroma: a tumour of the fibrous tissue
Lipoma: an overactive cluster of fat cel s producing a
palpable swel ing
Sebaceous cyst: a cyst of the sebaceous gland due to
blockage of the duct of this gland which opens mostly into
the hair fol icle
Cal osity: a raised thickened patch of hyperkeratosis
commonly seen in areas of the body which undergo
excessive wear and tear and repeated minor traumas
180
Sinus: a blind track leading from the surface down to the
tissues
Fistula: a communicating track between two epithelial
surfaces, commonly between a hol ow viscus and the skin or
between two hol ow viscera
Bul ous impetigo: skin infection characterized by flaccid,
transparent bul ae usual y <3 cm in diameter on
previously untraumatized skin
Perianal
dermatitis/cel ulitis/streptococcal
disease: a
distinct clinical entity characterized by wel demarcated,
perianal erythema associated with anal pruritus, painful
defecation, and occasional y blood-streaked stools
181
25. Bone and Joint Disorders
Contractures: a loss of mobility of a joint from congenital or
acquired causes and are caused by periarticular soft-tissue
fibrosis or involvement of muscles crossing the joint
Valgus: bone deformity with apex towards midline
Varus: bone deformity with apex away from midline
Range of motion of joints
A. Abduction: away from the midline
B. Adduction: toward the midline
C. Flexion: movement of bending from the starting position
D. Extension: movement from bending to the starting
position
E. Supination: rotating the forearm to face the palm upward
F. Pronation: rotating the forearm to face the palm
downward
G. Inversion: turning the hindfoot inward
H. Eversion: turning the hindfoot outward
182
I. Plantarflexion: pointing the toes away from the body
(toward the floor)
J. Dorsiflexion: pointing the toes toward the body (toward
the ceiling)
K. Internal rotation: turning inward toward the axis of the
body
L. External rotation: turning outward away from the axis of
the body
Foot
A. Forefoot: toes and metatarsals
B. Midfoot: cuneiforms, navicular, cuboid
C. Hindfoot: talus and calcaneus
Hip subluxation: partial contact between the femoral head
and acetabulum
Hip dislocation: a hip with no contact between the
articulating surfaces of the hip
Legg-Calv?-Perthes disease: a hip disorder that results
from temporary interruption of the blood supply to the
183
proximal femoral epiphysis, leading to osteonecrosis and
femoral head deformity
Slipped capital femoral epiphysis: failure of the physis and
displacement of the femoral head relative to the neck
Scoliosis: a complex 3-dimensional spinal deformity that
is defined in the coronal plane as a curve of 10?,
measured by the Cobb method, on a posteroanterior
radiograph of the spine
A. Congenital scoliosis: a spinal deformity that results
from abnormal development of the bony spinal column
Hyperkyphosis: thoracic kyphosis in excess of the normal
range of values (>50? measured from T3-T12)
Lordosis: an increased anterior curvature of lumbar spine
Spondylolysis: a defect in the pars interarticularis, the
segment of bone connecting the superior and inferior
articular facets in the vertebra
184
Spondylolisthesis: a forward slippage of 1 vertebra on
another
Spondylitis: inflammation of the vertebrae
Syndactyly: failure of the individual digits to separate
during development
Brachydactyly: a condition of having short digits
Camptodactyly: permanent flexion of one or more fingers
associated with missing inner phalangeal creases indicating
lack of finger movement from before 8 wk of gestation
Clinodactyly: a medial or lateral curving of the fingers;
usual y refers to incurving of the 5th finger
Postaxial polydactyly: extra finger or toe present on the
lateral side of the hand or foot
Preaxial polydactyly: extra finger or toe present on the
medial side of the hand or foot
185
Ectrodactyly: a partial or total absence of the distal
segments of a hand or foot, with the proximal segments of
the limbs more or less normal
Arachnodactyly: unusual y long, spider-like digits
Brushfield spots: speckled white rings (about 23) at a
distance to the periphery of the iris of the eye
Hypoplastic nail: an unusual y smal nail on a digit
Low-set ears: this designation is made when the helix meets
the cranium at a level below a horizontal plane that is an
extension of a line through both inner canthi
Melia: suffix meaning "limb" (e.g., amelia--missing limb;
brachymelia--short limb)
Posterior parietal hair whorl: a single whorl occurs to the
right or left of midline and within 2 cm anterior to the
posterior fontanel representing the focal point from which
the posterior scalp skin was under growth tension during
brain growth between the 10th and 16th wk of fetal
186
development
Prominent lateral palatine ridges: relative overgrowth of the
lateral palatine ridges secondary to a deficit of tongue thrust
into the hard palate
Shawl scrotum: the scrotal skin joins around the superior
aspect of the penis and represents a mild deficit in ful
migration of the labial-scrotal folds
Short palpebral fissures: decreased horizontal distance of
the eyelid folds based on measurement from the inner to the
outer canthus
Synophrys: eyebrows that meet in the midline
Telecanthus: lateral displacement of the inner canthi. The
intercanthal distance (ICD) is increased, but the interpupil ary
distance (IPD) is normal
Widow's peak: V-shaped midline, downward projection of the
scalp hair in the frontal region representing an upper
forehead intersection of the bilateral fields of periocular hair
187
growth suppression
Arthrogryposis multiplex congenita: a heterogeneous group
of muscular, neurologic, and connective tissue anomalies
that present with 2 joint contractures at birth as wel as
muscle weakness
Sprain: an injury to a ligament or joint capsule
Strain: an injury to a muscle or tendon
Contusion: a crush injury to any soft tissue
Overuse injuries: injuries caused by repetitive microtrauma
that exceeds the body's rate of repair
Felon/Pulp space infection: a subcutaneous infection of the
terminal segment of a digit
Dactylitis: infection of the phalanges or metacarpals
188
Acheiria: congenital absence of an entire hand
Acheiropodia: congenital absence of both hands and feet
Ankylosis: a stiffness of a joint
Rocker bottom feet: feet with prominent heel and a loss of
the normal concave longitudinal arch of the sole
Osteoporosis: fragility of the skeletal system and a
susceptibility to fractures of the long bones or vertebral
compressions from mild or inconsequential trauma
Marfan syndrome: an inherited, systemic, connective
tissue disorder caused by mutations in the gene
encoding the extracel ular matrix protein fibril in-1
Hyperphosphatasia: excessive elevation of the bone
isoenzyme of alkaline phosphatase in serum and
significant growth failure
Arthritis: intraarticular swel ing or the presence of 2 of
189
the fol owing signs: limitation in range of motion,
tenderness or pain on motion, and warmth
A. Oligoarthritis: arthritis involving 4 joints within the 1st
6 mths of disease onset, and often only a single joint is
involved
B. Polyarthritis: arthritis characterized by inflammation of
5 joints in both upper and lower extremities during 1st 6
mths of disease
C. Psoriatic arthritis: arthritis and psoriasis or arthritis and
2 of the fol owing: (1) dactylitis, (2) nail pitting or
onycholysis, or (3) psoriasis in a 1st-degree relative
Orthosis: a device that is applied to the surface of the
body to maintain alignment or position, to prevent or
assist movement of the body part, or to provide support
Prosthesis: a device that replaces a missing body part,
such as an arm or a leg
Rheumatic
disease:
chronic,
multisystem
diseases
characterized by an unpredictable course with periods of
exacerbation and remission
190
26. Environmental Health Hazards
Heat syncope: fainting after prolonged exercise attributed
to poor vasomotor tone and depleted intravascular
volume, and it responds to fluids, cooling, and supine
positioning
Heat edema: mild edema of the hands and feet during
initial
exposure
to
heat which
resolves
with
acclimatization
Heat tetany: carpopedal tingling or spasms caused by
heat-related hyperventilation which responds to moving to
a cooler environment and decreasing respiratory rate (or
rebreathing by breathing into a bag)
Heat
exhaustion: a
moderate
il ness
with
core
temperature 37.7-39.4?C (100-103?F)
191
This post was last modified on 03 August 2021