Comprehensive Pediatrics Glossary

G

Definition: Rare autosomal recessive metabolic disorder caused by deficiency of enzymes involved in galactose metabolism (commonly galactose-1-phosphate uridyltransferase).
Clinical Features:
- Neonatal jaundice, vomiting, diarrhea, hepatomegaly.
- Failure to thrive, cataracts, hypotonia.
Investigations:
- Newborn screening (reduces morbidity).
- Blood galactose-1-phosphate levels, enzyme assay.
Management: Lifelong galactose-free diet; monitor growth and developmental milestones.
Complications: Liver failure, intellectual disability, speech disorders if untreated.

Definition: Retrograde movement of gastric contents into the esophagus.
Epidemiology: Common in infants; usually physiological and self-limiting.
Clinical Features: Regurgitation, vomiting, poor weight gain, irritability.
Complications: Esophagitis, apnea, respiratory problems.
Investigations: Usually clinical; pH probe or upper GI series in severe cases.
Management:
- Conservative: Positioning, thickened feeds, small frequent meals.
- Pharmacologic: H2 blockers, proton pump inhibitors for symptomatic GERD.

Definition: Inflammation of the stomach and intestines, often infectious in etiology.
Etiologies:
- Viral: Rotavirus, norovirus.
- Bacterial: Salmonella, Shigella, E. coli.
- Parasitic: Giardia lamblia.
Clinical Features: Diarrhea, vomiting, fever, abdominal pain, dehydration.
Investigations: Usually clinical; stool culture if bloody diarrhea or immunocompromised.
Management: Oral rehydration, zinc supplementation, antibiotics for specific bacterial infections.

Common Examples:
- Down Syndrome (Trisomy 21) – intellectual disability, characteristic facies.
- Turner Syndrome – monosomy X, short stature, gonadal dysgenesis.
- Fragile X Syndrome – intellectual disability, macroorchidism, behavioral issues.
- Cystic Fibrosis – autosomal recessive, CFTR mutation, multisystem involvement.
Diagnosis: Chromosomal analysis, genetic testing, clinical assessment.
Management: Symptomatic, multidisciplinary care; genetic counseling essential.

Definition: Immune-mediated inflammation of glomeruli, often following infections.
Etiology: Most commonly post-streptococcal (PSGN).
Clinical Features: Hematuria, edema (periorbital), hypertension, mild proteinuria.
Investigations:
- Urinalysis (RBC casts).
- Elevated ASO titers, low C3 complement.
Management: Supportive: fluid/salt restriction, antihypertensives if needed; antibiotics for underlying infection.
Prognosis: Usually self-limiting; rare progression to chronic kidney disease.

Definition: Inherited disorders of glycogen metabolism causing hypoglycemia, hepatomegaly, and growth delay.
Common Types:
- Type I (Von Gierke): Severe hypoglycemia, hepatomegaly, lactic acidosis.
- Type III (Cori): Hepatomegaly, mild hypoglycemia, muscle involvement.
Investigations: Enzyme assay, liver biopsy, genetic testing.
Management: Dietary: frequent feeds, uncooked cornstarch, avoid fasting. Liver transplant in severe cases.

Definition: Abnormalities in height or weight progression relative to age norms.
Etiologies:
- Endocrine: Hypothyroidism, growth hormone deficiency, Cushing’s.
- Genetic: Turner syndrome, skeletal dysplasias.
- Nutritional: Malnutrition, chronic illness.
Clinical Assessment: Growth charts, parental heights, pubertal staging.
Investigations: Hormonal assays, bone age X-ray, genetic testing if indicated.
Management: Treat underlying cause; GH therapy for deficiency, nutritional optimization, endocrinology follow-up.

Definition: Acute inflammatory demyelinating polyneuropathy causing rapidly progressive weakness.
Etiology: Autoimmune, often triggered by infections (Campylobacter jejuni, influenza, EBV).
Clinical Features: Symmetric ascending weakness, areflexia, mild sensory symptoms.
Investigations:
- CSF: albuminocytologic dissociation.
- Nerve conduction studies.
Management: IV immunoglobulin, supportive care (respiratory monitoring).
Prognosis: Most children recover fully, but rehabilitation may be required.

Definitions:
- Genu Varum: Bowing of the legs outward.
- Genu Valgum: Knock-knees.
Etiology: Physiological in early childhood, rickets, skeletal dysplasias, Blount disease.
Investigations: Clinical measurement, X-rays if persistent or severe.
Management: Observation for physiologic cases, treat underlying cause (vitamin D, orthotics), surgery for severe deformities.

Definition: Benign proliferation of glandular breast tissue in boys.
Epidemiology: Common in early puberty due to transient hormonal imbalance.
Clinical Features: Tender or non-tender breast enlargement, usually bilateral.
Investigations: Usually clinical; endocrine evaluation if atypical (unilateral, persistent).
Management: Observation; reassurance; rarely surgical correction.

Common Causes:
- Neonates: Intestinal atresia, malrotation with volvulus, Hirschsprung disease.
- Infants/Children: Intussusception, incarcerated hernia, congenital bands.
Clinical Features: Vomiting (bilious/non-bilious), abdominal distension, constipation/obstipation, pain, “currant jelly” stools in intussusception.
Investigations: Abdominal X-ray, ultrasound (target sign for intussusception), contrast studies.
Management: Surgical intervention often required; initial resuscitation includes IV fluids and correction of electrolyte imbalances.

Definition: Surgical or endoscopic creation of an opening into the stomach for long-term enteral nutrition.
Indications: Failure to thrive, neuromuscular disorders, severe dysphagia, congenital anomalies.
Complications: Infection, leakage, granulation tissue, tube dislodgement.
Management: Proper tube care, nutritional monitoring, multidisciplinary support (nutritionist, nurse, physician).

Types:
- Nephrotic Syndrome: Proteinuria, edema, hypoalbuminemia, hyperlipidemia; most commonly minimal change disease in children.
- Nephritic Syndrome: Hematuria, hypertension, oliguria; commonly post-infectious.
Investigations: Urinalysis, serum albumin, renal function tests, renal biopsy if indicated.
Management: Depends on etiology (steroids for minimal change disease, supportive care for post-infectious nephritis).

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