Comprehensive Pediatrics Glossary

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Neonatal Abstinence Syndrome (NAS)

  • Definition: Withdrawal syndrome in newborns due to in utero exposure to opioids or other substances.

  • Clinical Features: Tremors, irritability, high-pitched cry, feeding difficulties, vomiting, diarrhea, poor weight gain, sleep disturbances, seizures in severe cases.

  • Investigations: Maternal drug history, urine/meconium toxicology, Finnegan scoring system for severity.

  • Management: Supportive care (swaddling, small frequent feeds), pharmacologic therapy with morphine or methadone for severe withdrawal, monitoring growth and neurodevelopment.

Neonatal Jaundice

  • Definition: Yellowing of the skin and sclera in newborns due to bilirubin accumulation.

  • Types: Physiologic, pathologic (hemolytic, hepatic, obstructive), breast milk jaundice.

  • Clinical Features: Yellow skin progressing head-to-toe, poor feeding, lethargy if severe.

  • Investigations: Total and direct bilirubin, Coombs test, blood type, liver function tests.

  • Management: Phototherapy, exchange transfusion for severe hyperbilirubinemia, treatment of underlying cause.

Nephrotic Syndrome (Pediatric)

  • Definition: Kidney disorder characterized by heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema.

  • Etiology:

    • Primary: Minimal change disease (most common in children), FSGS.

    • Secondary: Lupus nephritis, infections, drugs.

  • Clinical Features: Periorbital edema, ascites, lower limb edema, frothy urine.

  • Investigations: Urinalysis (proteinuria), serum albumin, cholesterol, renal biopsy if atypical.

  • Management: Corticosteroids (first-line), immunosuppressants for steroid-resistant cases, supportive care (diuretics, dietary management).

  • Complications: Infection, thromboembolism, relapses, chronic kidney disease.

Neonatal Sepsis

  • Definition: Systemic infection occurring in neonates.

  • Classification:

    • Early-onset (<72 hours, often vertical transmission)

    • Late-onset (>72 hours, often nosocomial).

  • Clinical Features: Temperature instability, respiratory distress, lethargy, poor feeding, hypotension.

  • Investigations: Blood culture, CBC, CRP, lumbar puncture if indicated, urine culture.

  • Management: Empirical IV antibiotics (ampicillin + gentamicin or cefotaxime), supportive care, adjust based on culture.

  • Complications: Multiorgan failure, death if untreated.

Neuroblastoma

  • Definition: Malignant tumor of sympathetic nervous system, most common extracranial solid tumor in children.

  • Epidemiology: Peak incidence <5 years.

  • Clinical Features: Abdominal mass, pain, pallor, weight loss, periorbital ecchymoses (“raccoon eyes”), Horner syndrome if cervical involvement.

  • Investigations: Urinary catecholamines (VMA/HVA), abdominal ultrasound, CT/MRI, biopsy for histopathology, bone marrow aspirate.

  • Management: Risk-adapted therapy: surgery, chemotherapy, radiotherapy, stem cell transplant for high-risk patients.

  • Prognosis: Variable; excellent in low-risk, poor in high-risk cases.

Neural Tube Defects (NTDs)

  • Definition: Congenital malformations due to incomplete closure of the neural tube.

  • Types:

    • Spina bifida occulta

    • Meningocele

    • Myelomeningocele

    • Anencephaly

  • Clinical Features: Sac-like protrusion, lower limb paralysis, bladder/bowel dysfunction, cranial deformities (in anencephaly).

  • Investigations: Prenatal ultrasound, maternal serum alpha-fetoprotein, MRI postnatally.

  • Management: Surgical correction for meningoceles and myelomeningoceles, supportive care, multidisciplinary follow-up.

  • Prevention: Maternal folic acid supplementation preconception and during early pregnancy.

Neonatal Hypoglycemia

  • Definition: Low blood glucose (<40 mg/dL in first 24 hours, <45 mg/dL thereafter) in newborns.

  • Etiology: Prematurity, intrauterine growth restriction, maternal diabetes, sepsis, inborn errors of metabolism.

  • Clinical Features: Jitteriness, lethargy, poor feeding, seizures, apnea in severe cases.

  • Investigations: Point-of-care glucose, serum glucose monitoring, endocrine/metabolic work-up if recurrent.

  • Management: Prompt glucose administration (oral if mild, IV dextrose if severe), treat underlying cause.

Neonatal Respiratory Distress Syndrome (RDS)

  • Definition: Respiratory failure in preterm infants due to surfactant deficiency.

  • Clinical Features: Tachypnea, grunting, nasal flaring, chest retractions, cyanosis shortly after birth.

  • Investigations: Chest X-ray (ground-glass appearance), arterial blood gas, clinical assessment.

  • Management: Surfactant replacement therapy, oxygen supplementation, CPAP or mechanical ventilation, supportive care.

  • Complications: Bronchopulmonary dysplasia, pneumothorax, pulmonary hypertension.

Nephrolithiasis (Pediatric)

  • Definition: Formation of kidney stones in children.

  • Etiology: Metabolic disorders, UTIs, anatomical abnormalities, dehydration.

  • Clinical Features: Flank pain, hematuria, nausea, urinary tract infections.

  • Investigations: Urinalysis, ultrasound, CT scan (low-dose for stone localization), metabolic evaluation.

  • Management: Hydration, analgesia, dietary modification, lithotripsy or surgical intervention if indicated.

Neonatal Polycythemia

  • Definition: Hematocrit >65% in newborns.

  • Etiology: Maternal diabetes, intrauterine growth restriction, delayed cord clamping, twin-twin transfusion.

  • Clinical Features: Ruddy appearance, lethargy, hypoglycemia, respiratory distress, poor feeding.

  • Investigations: CBC with hematocrit, blood viscosity, glucose, oxygen saturation.

  • Management: Partial exchange transfusion for symptomatic cases, hydration, monitor complications.

Nutritional Deficiencies (Pediatric)

  • Common Deficiencies:

    • Iron: anemia, pallor, fatigue.

    • Vitamin D: rickets, bone deformities.

    • Vitamin A: xerophthalmia, increased infection susceptibility.

    • Zinc: growth retardation, poor wound healing, diarrhea.

  • Investigations: CBC, serum ferritin, 25(OH) vitamin D, serum zinc, clinical assessment.

  • Management: Dietary supplementation, fortified foods, treatment of underlying causes, education for caregivers.

 

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