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Comprehensive Pediatrics Glossary

M

Measles (Rubeola)

  • Definition: Highly contagious viral infection caused by measles virus.

  • Epidemiology: Peak incidence in children 6 months–5 years; outbreaks in areas with low vaccination coverage.

  • Clinical Features:

    • Prodrome: Fever, cough, coryza, conjunctivitis.

    • Koplik spots (white lesions on buccal mucosa).

    • Maculopapular rash starting at the face, spreading cephalocaudally.

  • Complications: Otitis media, pneumonia, diarrhea, encephalitis, subacute sclerosing panencephalitis (rare).

  • Investigations: Clinical diagnosis; serology (IgM antibodies) for confirmation.

  • Management: Supportive: hydration, antipyretics, vitamin A supplementation.

  • Prevention: Measles-containing vaccines (MMR).

Meningitis (Pediatric)

  • Definition: Inflammation of meninges, usually infectious.

  • Etiology:

    • Bacterial: Neisseria meningitidis, Streptococcus pneumoniae, Haemophilus influenzae type b.

    • Viral: Enteroviruses (most common overall).

  • Clinical Features: Fever, irritability, poor feeding, bulging fontanelle (infants), nuchal rigidity, vomiting, seizures.

  • Investigations: CBC, CRP, blood culture, lumbar puncture (CSF analysis: cell count, glucose, protein, culture).

  • Management:

    • Bacterial: Empirical IV antibiotics (ceftriaxone/vancomycin) immediately.

    • Viral: Supportive care.

  • Complications: Hearing loss, neurologic deficits, hydrocephalus, death.

  • Prevention: Vaccination (Hib, pneumococcal, meningococcal).

Meningococcemia

  • Definition: Systemic infection with Neisseria meningitidis causing sepsis and purpura fulminans.

  • Clinical Features: Fever, hypotension, petechial/purpuric rash, DIC, multi-organ failure.

  • Investigations: Blood cultures, coagulation profile, CBC.

  • Management: Rapid IV antibiotics (ceftriaxone/penicillin), supportive care in ICU, manage DIC.

  • Prevention: Vaccination (quadrivalent meningococcal, MenB).

Metabolic Disorders (Pediatric)

  • Definition: Genetic or acquired disorders affecting metabolism.

  • Common Examples:

    • Phenylketonuria (PKU)

    • Maple syrup urine disease

    • Galactosemia

    • Urea cycle defects

  • Clinical Features: Feeding difficulties, vomiting, developmental delay, lethargy, seizures, failure to thrive.

  • Investigations: Newborn screening, plasma amino acids, urine organic acids, enzyme assays.

  • Management: Dietary restriction, supplementation, emergency metabolic management.

Microcephaly

  • Definition: Head circumference <2 SD below mean for age and sex.

  • Etiology: Genetic syndromes, congenital infections (TORCH), perinatal hypoxia, metabolic disorders.

  • Clinical Features: Small head, developmental delay, neurologic deficits, seizures.

  • Investigations: Head circumference charts, neuroimaging (MRI/CT), genetic testing, metabolic work-up.

  • Management: Symptomatic and supportive: physiotherapy, occupational therapy, management of seizures, special education.

Molluscum Contagiosum

  • Definition: Self-limiting viral skin infection caused by a poxvirus.

  • Clinical Features: Small, flesh-colored, dome-shaped papules with central umbilication, commonly on trunk, extremities, face.

  • Investigations: Clinical diagnosis.

  • Management: Usually resolves spontaneously; curettage, cryotherapy, or topical therapy (imiquimod) for cosmetic or persistent cases.

Mononucleosis (Epstein-Barr Virus Infection)

  • Definition: Acute lymphoproliferative disease caused by EBV.

  • Clinical Features: Fever, pharyngitis, lymphadenopathy (cervical), splenomegaly, fatigue, hepatomegaly.

  • Investigations: Heterophile antibody test (Monospot), EBV serology, CBC showing atypical lymphocytes.

  • Management: Supportive care, analgesics, hydration, avoid contact sports due to splenomegaly.

  • Complications: Hemolytic anemia, thrombocytopenia, airway obstruction (rare).

Muscular Dystrophies (Pediatric)

  • Definition: Group of inherited disorders causing progressive muscle weakness.

  • Common Types:

    • Duchenne Muscular Dystrophy (DMD): X-linked recessive, onset 2–5 years, calf pseudohypertrophy, Gower sign, rapid progression.

    • Becker Muscular Dystrophy: Milder, later onset, slower progression.

  • Investigations: CK elevation, genetic testing (dystrophin gene), EMG, muscle biopsy.

  • Management: Corticosteroids, physiotherapy, orthopedic interventions, cardiac and respiratory monitoring.

  • Prognosis: DMD: wheelchair-bound by early teens, life expectancy reduced; Becker: variable.

Myasthenia Gravis (Juvenile)

  • Definition: Autoimmune disorder affecting neuromuscular junction causing muscle weakness.

  • Clinical Features: Ptosis, diplopia, generalized weakness, fatigability, dysphagia.

  • Investigations: Acetylcholine receptor antibodies, EMG, repetitive nerve stimulation, thymus imaging.

  • Management: Acetylcholinesterase inhibitors (pyridostigmine), immunosuppressants (steroids, azathioprine), thymectomy in selected cases.

Myocarditis (Pediatric)

  • Definition: Inflammation of the heart muscle, usually viral in children.

  • Clinical Features: Fatigue, tachycardia, dyspnea, chest pain, palpitations, signs of heart failure.

  • Investigations: ECG (ST-T changes, arrhythmias), echocardiography, cardiac biomarkers (troponin), MRI.

  • Management: Supportive care (heart failure management), immunomodulation in selected cases, monitoring for arrhythmias.

  • Complications: Dilated cardiomyopathy, arrhythmias, sudden death.

Meningomyelocele

  • Definition: Severe form of spina bifida where meninges and spinal cord protrude through vertebral defect.

  • Clinical Features: Visible sac at birth, lower limb weakness or paralysis, bladder/bowel dysfunction, orthopedic deformities.

  • Investigations: Prenatal ultrasound, postnatal MRI/CT, neurologic assessment.

  • Management: Early surgical closure, multidisciplinary care (neurosurgery, orthopedics, urology, physiotherapy).

  • Complications: Hydrocephalus, infection, paralysis, tethered cord syndrome.

Methemoglobinemia (Pediatric)

  • Definition: Elevated methemoglobin (>1–2% normal), reducing oxygen-carrying capacity of blood.

  • Etiology: Congenital (enzyme deficiency), acquired (drugs, chemicals).

  • Clinical Features: Cyanosis unresponsive to oxygen, fatigue, tachypnea, neurologic symptoms in severe cases.

  • Investigations: Co-oximetry, blood gas analysis, methemoglobin levels.

  • Management: Remove offending agent, methylene blue for severe cases, supportive oxygen therapy.

 

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