C
Café-au-lait Spots
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Definition: Flat, pigmented skin macules that are light to dark brown, resembling coffee with milk.
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Clinical Significance:
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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).
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May also be associated with McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia.
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Investigations: Genetic testing for NF1 if criteria are met, skin examination, ophthalmologic exam for Lisch nodules.
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Management: Monitoring for NF1 complications (learning difficulties, scoliosis, tumors).
Calcaneovalgus Foot
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Definition: Benign foot deformity seen in neonates where the foot is dorsiflexed and everted against the tibia.
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Etiology: Intrauterine positioning.
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Clinical Features: Flexible deformity, foot can be passively corrected.
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Differential Diagnosis: Talipes equinovarus (clubfoot), vertical talus.
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Management: Usually resolves spontaneously; physiotherapy and stretching exercises may help. Rarely, casting is required.
Calcium Disorders (Pediatric Hypocalcemia & Hypercalcemia)
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Hypocalcemia:
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Causes: Hypoparathyroidism, Vitamin D deficiency, DiGeorge syndrome, sepsis, renal failure.
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Symptoms: Tetany, seizures, stridor, prolonged QT on ECG.
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Hypercalcemia:
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Causes: Hyperparathyroidism, Williams syndrome, vitamin D intoxication, malignancy.
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Symptoms: Lethargy, vomiting, constipation, polyuria, nephrocalcinosis.
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Investigations: Serum calcium, phosphate, PTH, vitamin D levels.
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Management:
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Hypocalcemia: Calcium gluconate IV in emergencies, Vitamin D supplementation.
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Hypercalcemia: IV fluids, diuretics, bisphosphonates if severe.
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Campylobacter Infection
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Definition: Bacterial gastroenteritis commonly caused by Campylobacter jejuni.
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Epidemiology: Common cause of diarrhea in children, associated with undercooked poultry.
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Clinical Features: Fever, abdominal pain, bloody diarrhea. May mimic appendicitis.
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Complications: Guillain-Barré syndrome, reactive arthritis.
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Investigations: Stool culture, PCR.
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Management: Supportive hydration. Antibiotics (macrolides) reserved for severe/prolonged disease.
Caput Succedaneum
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Definition: Subcutaneous edema of the newborn’s scalp that crosses suture lines, present at birth.
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Cause: Pressure from the birth canal during vaginal delivery.
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Clinical Features: Soft, boggy swelling that resolves within 24–48 hours.
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Differential Diagnosis: Cephalohematoma (does not cross suture lines), subgaleal hemorrhage (serious).
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Management: Self-limiting, no treatment required.
Cardiac Murmurs in Children
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Innocent Murmurs: Soft, systolic, vary with position, no associated symptoms.
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Pathologic Murmurs:
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VSD (Holosystolic at LLSB)
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ASD (Fixed split S2)
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PDA (Continuous machinery murmur)
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TOF (Ejection systolic, single S2)
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Investigations: ECG, CXR, Echocardiography.
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Management: Depends on etiology—surgical repair for VSD/ASD, indomethacin for PDA.
Cardiomyopathy (Pediatric)
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Types:
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Dilated: Viral myocarditis, Duchenne muscular dystrophy.
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Hypertrophic: Genetic, Noonan syndrome, infants of diabetic mothers.
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Restrictive: Rare, often infiltrative diseases.
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Symptoms: Heart failure, arrhythmias, sudden cardiac death (HCM).
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Investigations: Echo, ECG, genetic testing, CMR.
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Management:
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Dilated: ACE inhibitors, diuretics, transplant.
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Hypertrophic: Beta-blockers, avoid dehydration/exertion.
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Restrictive: Symptomatic, transplant definitive.
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Carpenter Syndrome
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Definition: Rare genetic craniosynostosis syndrome.
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Features: Craniosynostosis, syndactyly, obesity, congenital heart defects, developmental delay.
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Genetics: Autosomal recessive, mutations in RAB23 gene.
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Management: Multidisciplinary: neurosurgery, cardiology, orthopedic surgery, special education.
Celiac Disease (Pediatric)
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Definition: Autoimmune enteropathy triggered by gluten in genetically predisposed children.
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Symptoms: Diarrhea, failure to thrive, abdominal distension, anemia, irritability.
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Investigations:
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Serology: Anti-tTG IgA, EMA.
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Confirmed by duodenal biopsy showing villous atrophy.
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Management: Strict lifelong gluten-free diet, nutritional supplementation.
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Complications: Malnutrition, osteoporosis, increased lymphoma risk.
Central Cyanosis in Neonates
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Definition: Bluish discoloration of skin/mucous membranes due to arterial hypoxemia.
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Causes:
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Cardiac: Tetralogy of Fallot, Transposition of Great Arteries.
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Pulmonary: RDS, pneumonia, meconium aspiration.
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Hematologic: Methemoglobinemia.
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Investigations: Pulse oximetry, hyperoxia test, CXR, Echo.
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Management: Oxygen therapy, treat underlying cause, prostaglandin E1 for duct-dependent lesions.
Cerebral Palsy (CP)
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Definition: Non-progressive motor impairment due to an insult to the developing brain.
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Types:
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Spastic (most common) – Diplegia, hemiplegia, quadriplegia.
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Dyskinetic – Athetosis, dystonia.
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Ataxic – Poor balance, coordination.
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Risk Factors: Prematurity, hypoxic-ischemic encephalopathy, infections, trauma.
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Features: Motor delay, abnormal tone, reflex abnormalities, seizures, intellectual disability.
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Investigations: MRI brain, developmental assessment.
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Management:
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Multidisciplinary (physio, OT, speech therapy).
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Medications: Baclofen, botulinum toxin for spasticity.
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Orthopedic surgery for contractures.
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Chickenpox (Varicella)
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Definition: Primary infection with Varicella Zoster Virus (VZV).
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Clinical Features: Fever, malaise, pruritic vesicular rash in crops (“dew drops on a rose petal”).
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Complications: Secondary bacterial infection, pneumonia, encephalitis, cerebellitis, Reye’s syndrome.
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Management: Supportive; acyclovir for immunocompromised/severe cases.
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Prevention: Varicella vaccine.
Choanal Atresia
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Definition: Congenital obstruction of posterior nasal apertures.
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Presentation: Newborn with cyclic cyanosis, worse during feeding and relieved by crying.
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Diagnosis: Failure to pass nasogastric tube, CT scan.
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Management: Emergency airway stabilization, surgical repair.
Chronic Lung Disease of Prematurity (Bronchopulmonary Dysplasia)
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Definition: Long-term oxygen requirement beyond 28 days postnatal age in preterm infants with RDS.
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Pathogenesis: Lung injury from oxygen toxicity, barotrauma, inflammation.
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Features: Tachypnea, retractions, hypoxemia.
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Investigations: CXR shows hyperinflation, cystic changes.
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Management: Oxygen therapy, diuretics, nutrition, inhaled steroids. Prevention with antenatal steroids, gentle ventilation.
Clubfoot (Talipes Equinovarus)
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Definition: Congenital deformity with hindfoot equinus and varus, forefoot adductus, and cavus.
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Management: Ponseti method (serial casting, Achilles tenotomy), surgical correction if refractory.
Coarctation of the Aorta
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Definition: Congenital narrowing of aortic arch.
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Presentation:
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Infant: CHF, shock after duct closure.
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Older child: Hypertension in upper limbs, weak femoral pulses, radio-femoral delay.
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Investigations: Echo, CXR (“figure 3 sign”).
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Management: Prostaglandin E1 infusion in neonates, surgical repair, or balloon angioplasty.
Congenital Diaphragmatic Hernia
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Definition: Herniation of abdominal viscera into thorax due to diaphragmatic defect.
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Presentation: Respiratory distress at birth, scaphoid abdomen, decreased breath sounds.
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Investigations: CXR showing bowel loops in chest.
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Management: Intubation, gastric decompression, surgical repair once stabilized.
Congenital Hypothyroidism
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Causes: Thyroid dysgenesis, dyshormonogenesis, maternal antithyroid drugs.
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Clinical Features: Prolonged jaundice, macroglossia, umbilical hernia, hypotonia, constipation.
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Investigations: Newborn screening (T4, TSH).
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Management: Lifelong levothyroxine. Early treatment prevents intellectual disability.
Croup (Laryngotracheobronchitis)
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Definition: Acute viral infection (usually parainfluenza virus) causing upper airway obstruction.
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Symptoms: Barking cough, inspiratory stridor, hoarseness, worse at night.
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Investigations: Clinical diagnosis; X-ray shows “steeple sign.”
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Management:
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Mild: Humidified air, steroids (dexamethasone).
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Severe: Nebulized adrenaline, oxygen, intubation if impending obstruction.
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