Comprehensive Pediatrics Glossary

C

Café-au-lait Spots

  • Definition: Flat, pigmented skin macules that are light to dark brown, resembling coffee with milk.

  • Clinical Significance:

    • Common in otherwise healthy children, but multiple spots (>6) larger than 0.5 cm in prepubertal children or >1.5 cm in postpubertal children are diagnostic criteria for Neurofibromatosis Type 1 (NF1).

    • May also be associated with McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia.

  • Investigations: Genetic testing for NF1 if criteria are met, skin examination, ophthalmologic exam for Lisch nodules.

  • Management: Monitoring for NF1 complications (learning difficulties, scoliosis, tumors).

Calcaneovalgus Foot

  • Definition: Benign foot deformity seen in neonates where the foot is dorsiflexed and everted against the tibia.

  • Etiology: Intrauterine positioning.

  • Clinical Features: Flexible deformity, foot can be passively corrected.

  • Differential Diagnosis: Talipes equinovarus (clubfoot), vertical talus.

  • Management: Usually resolves spontaneously; physiotherapy and stretching exercises may help. Rarely, casting is required.

Calcium Disorders (Pediatric Hypocalcemia & Hypercalcemia)

  • Hypocalcemia:

    • Causes: Hypoparathyroidism, Vitamin D deficiency, DiGeorge syndrome, sepsis, renal failure.

    • Symptoms: Tetany, seizures, stridor, prolonged QT on ECG.

  • Hypercalcemia:

    • Causes: Hyperparathyroidism, Williams syndrome, vitamin D intoxication, malignancy.

    • Symptoms: Lethargy, vomiting, constipation, polyuria, nephrocalcinosis.

  • Investigations: Serum calcium, phosphate, PTH, vitamin D levels.

  • Management:

    • Hypocalcemia: Calcium gluconate IV in emergencies, Vitamin D supplementation.

    • Hypercalcemia: IV fluids, diuretics, bisphosphonates if severe.

Campylobacter Infection

  • Definition: Bacterial gastroenteritis commonly caused by Campylobacter jejuni.

  • Epidemiology: Common cause of diarrhea in children, associated with undercooked poultry.

  • Clinical Features: Fever, abdominal pain, bloody diarrhea. May mimic appendicitis.

  • Complications: Guillain-Barré syndrome, reactive arthritis.

  • Investigations: Stool culture, PCR.

  • Management: Supportive hydration. Antibiotics (macrolides) reserved for severe/prolonged disease.

Caput Succedaneum

  • Definition: Subcutaneous edema of the newborn’s scalp that crosses suture lines, present at birth.

  • Cause: Pressure from the birth canal during vaginal delivery.

  • Clinical Features: Soft, boggy swelling that resolves within 24–48 hours.

  • Differential Diagnosis: Cephalohematoma (does not cross suture lines), subgaleal hemorrhage (serious).

  • Management: Self-limiting, no treatment required.

Cardiac Murmurs in Children

  • Innocent Murmurs: Soft, systolic, vary with position, no associated symptoms.

  • Pathologic Murmurs:

    • VSD (Holosystolic at LLSB)

    • ASD (Fixed split S2)

    • PDA (Continuous machinery murmur)

    • TOF (Ejection systolic, single S2)

  • Investigations: ECG, CXR, Echocardiography.

  • Management: Depends on etiology—surgical repair for VSD/ASD, indomethacin for PDA.

Cardiomyopathy (Pediatric)

  • Types:

    • Dilated: Viral myocarditis, Duchenne muscular dystrophy.

    • Hypertrophic: Genetic, Noonan syndrome, infants of diabetic mothers.

    • Restrictive: Rare, often infiltrative diseases.

  • Symptoms: Heart failure, arrhythmias, sudden cardiac death (HCM).

  • Investigations: Echo, ECG, genetic testing, CMR.

  • Management:

    • Dilated: ACE inhibitors, diuretics, transplant.

    • Hypertrophic: Beta-blockers, avoid dehydration/exertion.

    • Restrictive: Symptomatic, transplant definitive.

Carpenter Syndrome

  • Definition: Rare genetic craniosynostosis syndrome.

  • Features: Craniosynostosis, syndactyly, obesity, congenital heart defects, developmental delay.

  • Genetics: Autosomal recessive, mutations in RAB23 gene.

  • Management: Multidisciplinary: neurosurgery, cardiology, orthopedic surgery, special education.

Celiac Disease (Pediatric)

  • Definition: Autoimmune enteropathy triggered by gluten in genetically predisposed children.

  • Symptoms: Diarrhea, failure to thrive, abdominal distension, anemia, irritability.

  • Investigations:

    • Serology: Anti-tTG IgA, EMA.

    • Confirmed by duodenal biopsy showing villous atrophy.

  • Management: Strict lifelong gluten-free diet, nutritional supplementation.

  • Complications: Malnutrition, osteoporosis, increased lymphoma risk.

Central Cyanosis in Neonates

  • Definition: Bluish discoloration of skin/mucous membranes due to arterial hypoxemia.

  • Causes:

    • Cardiac: Tetralogy of Fallot, Transposition of Great Arteries.

    • Pulmonary: RDS, pneumonia, meconium aspiration.

    • Hematologic: Methemoglobinemia.

  • Investigations: Pulse oximetry, hyperoxia test, CXR, Echo.

  • Management: Oxygen therapy, treat underlying cause, prostaglandin E1 for duct-dependent lesions.

Cerebral Palsy (CP)

  • Definition: Non-progressive motor impairment due to an insult to the developing brain.

  • Types:

    • Spastic (most common) – Diplegia, hemiplegia, quadriplegia.

    • Dyskinetic – Athetosis, dystonia.

    • Ataxic – Poor balance, coordination.

  • Risk Factors: Prematurity, hypoxic-ischemic encephalopathy, infections, trauma.

  • Features: Motor delay, abnormal tone, reflex abnormalities, seizures, intellectual disability.

  • Investigations: MRI brain, developmental assessment.

  • Management:

    • Multidisciplinary (physio, OT, speech therapy).

    • Medications: Baclofen, botulinum toxin for spasticity.

    • Orthopedic surgery for contractures.

Chickenpox (Varicella)

  • Definition: Primary infection with Varicella Zoster Virus (VZV).

  • Clinical Features: Fever, malaise, pruritic vesicular rash in crops (“dew drops on a rose petal”).

  • Complications: Secondary bacterial infection, pneumonia, encephalitis, cerebellitis, Reye’s syndrome.

  • Management: Supportive; acyclovir for immunocompromised/severe cases.

  • Prevention: Varicella vaccine.

Choanal Atresia

  • Definition: Congenital obstruction of posterior nasal apertures.

  • Presentation: Newborn with cyclic cyanosis, worse during feeding and relieved by crying.

  • Diagnosis: Failure to pass nasogastric tube, CT scan.

  • Management: Emergency airway stabilization, surgical repair.

Chronic Lung Disease of Prematurity (Bronchopulmonary Dysplasia)

  • Definition: Long-term oxygen requirement beyond 28 days postnatal age in preterm infants with RDS.

  • Pathogenesis: Lung injury from oxygen toxicity, barotrauma, inflammation.

  • Features: Tachypnea, retractions, hypoxemia.

  • Investigations: CXR shows hyperinflation, cystic changes.

  • Management: Oxygen therapy, diuretics, nutrition, inhaled steroids. Prevention with antenatal steroids, gentle ventilation.

Clubfoot (Talipes Equinovarus)

  • Definition: Congenital deformity with hindfoot equinus and varus, forefoot adductus, and cavus.

  • Management: Ponseti method (serial casting, Achilles tenotomy), surgical correction if refractory.

Coarctation of the Aorta

  • Definition: Congenital narrowing of aortic arch.

  • Presentation:

    • Infant: CHF, shock after duct closure.

    • Older child: Hypertension in upper limbs, weak femoral pulses, radio-femoral delay.

  • Investigations: Echo, CXR (“figure 3 sign”).

  • Management: Prostaglandin E1 infusion in neonates, surgical repair, or balloon angioplasty.

Congenital Diaphragmatic Hernia

  • Definition: Herniation of abdominal viscera into thorax due to diaphragmatic defect.

  • Presentation: Respiratory distress at birth, scaphoid abdomen, decreased breath sounds.

  • Investigations: CXR showing bowel loops in chest.

  • Management: Intubation, gastric decompression, surgical repair once stabilized.

Congenital Hypothyroidism

  • Causes: Thyroid dysgenesis, dyshormonogenesis, maternal antithyroid drugs.

  • Clinical Features: Prolonged jaundice, macroglossia, umbilical hernia, hypotonia, constipation.

  • Investigations: Newborn screening (T4, TSH).

  • Management: Lifelong levothyroxine. Early treatment prevents intellectual disability.

Croup (Laryngotracheobronchitis)

  • Definition: Acute viral infection (usually parainfluenza virus) causing upper airway obstruction.

  • Symptoms: Barking cough, inspiratory stridor, hoarseness, worse at night.

  • Investigations: Clinical diagnosis; X-ray shows “steeple sign.”

  • Management:

    • Mild: Humidified air, steroids (dexamethasone).

    • Severe: Nebulized adrenaline, oxygen, intubation if impending obstruction.

 

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