Comprehensive Pediatrics Glossary

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Definition: Congenital cyanotic heart disease consisting of four anomalies: ventricular septal defect (VSD), pulmonary stenosis, overriding aorta, and right ventricular hypertrophy.
Epidemiology: Most common cyanotic congenital heart defect beyond infancy.
Clinical Features: Cyanosis (especially during crying or feeding), “tet spells” (hypercyanotic episodes), dyspnea, clubbing, systolic murmur at left upper sternal border.
Investigations: Echocardiography (diagnostic), ECG, chest X-ray (boot-shaped heart), pulse oximetry.
Management: Surgical repair (intracardiac repair in infancy), management of tet spells (knee-chest position, oxygen, morphine), prostaglandin E1 if ductal-dependent.
Complications: Hypoxic spells, arrhythmias, infective endocarditis, delayed growth and development.

Definition: Genetic disorder caused by an extra copy of chromosome 21.
Clinical Features: Hypotonia, flat facial profile, upslanting palpebral fissures, single palmar crease, intellectual disability, congenital heart defects (AV septal defect), gastrointestinal anomalies (duodenal atresia).
Investigations: Karyotype (diagnostic), echocardiography for cardiac anomalies, thyroid function testing.
Management: Multidisciplinary: early intervention programs, cardiac surgery if indicated, speech/occupational therapy, routine surveillance for thyroid and hematologic disorders.
Complications: Congenital heart disease, leukemia, hypothyroidism, cognitive impairment.

Definition: Acute, often fatal disease caused by Clostridium tetani exotoxin leading to muscle rigidity and spasms.
Etiology: Contaminated wounds, unvaccinated children, neonatal infection via umbilical stump.
Clinical Features: Trismus (“lockjaw”), generalized muscle rigidity, opisthotonos, irritability, difficulty feeding.
Investigations: Clinical diagnosis primarily; wound culture rarely helpful.
Management: Supportive ICU care, wound debridement, tetanus immunoglobulin, antibiotics (metronidazole), muscle relaxants (benzodiazepines), vaccination.
Prevention: DTaP/Tdap vaccination according to immunization schedule.
Complications: Respiratory failure, autonomic dysfunction, death.

Definition: Self-limited respiratory disorder in neonates due to delayed clearance of fetal lung fluid.
Risk Factors: Cesarean delivery, prematurity, maternal diabetes, male sex.
Clinical Features: Tachypnea, mild grunting, nasal flaring, mild cyanosis, minimal retractions, resolves within 24–72 hours.
Investigations: Chest X-ray (prominent pulmonary vascular markings, fluid in fissures), pulse oximetry.
Management: Supportive care: oxygen therapy if needed, monitoring, hydration, usually resolves spontaneously.
Complications: Rare; may transiently require NICU admission.

Definition: Monosomy X (45,X) resulting in a spectrum of phenotypes in females.
Clinical Features: Short stature, webbed neck, low-set ears, broad chest with widely spaced nipples, primary ovarian failure, cardiovascular anomalies (coarctation of the aorta).
Investigations: Karyotype (diagnostic), echocardiography, renal ultrasound, endocrine evaluation.
Management: Growth hormone therapy, estrogen replacement for puberty, multidisciplinary care including cardiology and endocrinology.
Complications: Infertility, cardiovascular disease, hypothyroidism, learning difficulties (nonverbal).

Definition: Neurodevelopmental disorder characterized by multiple motor tics and at least one vocal tic present for >1 year.
Clinical Features: Sudden, rapid, recurrent, nonrhythmic movements or vocalizations (blinking, throat clearing, grunting).
Investigations: Clinical diagnosis; rule out secondary causes.
Management: Behavioral therapy (CBIT), pharmacologic therapy (antipsychotics, alpha-2 agonists) for severe tics, supportive care.
Complications: Social stigma, comorbid ADHD, OCD, anxiety disorders.

Definition: Congenital malformations where the esophagus ends blindly (atresia) with or without an abnormal connection (fistula) to the trachea.
Clinical Features: Excessive salivation, choking, coughing, cyanosis during feeds, inability to pass nasogastric tube.
Investigations: Chest and abdominal X-ray, contrast studies if needed.
Management: Surgical repair shortly after birth, preoperative stabilization with airway protection and suctioning.
Complications: Anastomotic leak, strictures, gastroesophageal reflux, recurrent respiratory infections.

Definition: Superficial fungal infections of skin, hair, or nails caused by dermatophytes (Trichophyton, Microsporum).
Clinical Features: Ring-shaped erythematous plaques with scaling (tinea corporis), scalp hair loss with scaling (tinea capitis), nail thickening (tinea unguium).
Investigations: Clinical examination, KOH preparation, fungal culture if uncertain.
Management: Topical antifungals (clotrimazole, miconazole), oral antifungals (griseofulvin, terbinafine) for extensive or scalp involvement.
Complications: Secondary bacterial infection, chronicity if untreated.

Definition: Abnormal, asymmetrical head or neck position due to unilateral sternocleidomastoid muscle shortening.
Etiology: Congenital, birth trauma, cervical spine abnormalities.
Clinical Features: Head tilt to affected side, chin rotation to opposite side, palpable neck mass (fibrotic SCM), limited neck motion.
Investigations: Clinical assessment, ultrasound of SCM, cervical spine X-ray to rule out bony anomalies.
Management: Physiotherapy, stretching exercises, surgery in severe/refractory cases.
Complications: Facial asymmetry, plagiocephaly, limited range of motion.

Definition: Group of inherited hemoglobinopathies characterized by reduced or absent synthesis of α or β globin chains.
Types: α-thalassemia, β-thalassemia minor (trait), β-thalassemia major (Cooley’s anemia).
Clinical Features: Anemia, pallor, growth retardation, hepatosplenomegaly, bone deformities (frontal bossing, maxillary prominence in β-thalassemia major).
Investigations: CBC, peripheral smear, hemoglobin electrophoresis, genetic testing.
Management:
- Mild: Observation, folic acid supplementation.
- Severe (thalassemia major): Regular transfusions, iron chelation therapy, stem cell transplantation if eligible.
Complications: Iron overload, cardiac complications, growth failure, endocrine dysfunction.

Definition: Inflammation of the palatine tonsils, often infectious (viral or bacterial).
Clinical Features: Sore throat, fever, dysphagia, erythematous tonsils with or without exudates, tender cervical lymphadenopathy.
Investigations: Throat swab, rapid antigen detection, CBC if bacterial infection suspected.
Management: Symptomatic for viral; antibiotics (penicillin/amoxicillin) if bacterial (Group A Streptococcus). Consider tonsillectomy for recurrent or obstructive cases.
Complications: Peritonsillar abscess, rheumatic fever, post-streptococcal glomerulonephritis.

Definition: Systemic infection caused by Salmonella Typhi or Paratyphi.
Clinical Features: Prolonged fever, abdominal pain, rose spots on trunk, hepatosplenomegaly, constipation or diarrhea.
Investigations: Blood culture (gold standard), Widal test (less specific), CBC (leukopenia or mild leukocytosis).
Management: Empiric antibiotics (ceftriaxone, azithromycin), supportive care, hydration, vaccination for prevention.
Complications: Intestinal perforation, hemorrhage, encephalopathy, sepsis.

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