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Metabolic Emergency in Infancy Presented by Medical Genetics Department.
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Patient Demographics Age/Sex: 4-month-old male infant Family: First son, non-consanguineous parents Gestation: Full term (40 weeks), normal delivery Social: First-time mother, unremarkable pregnancy CASE PROFILE: 4-MONTH-OLD INFANT.
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Day 3 Initiation of breast-feeding as the primary source of nutrition. Day 5 Development of poor feeding habits and persistent vomiting episodes. Progression Progressive onset of jaundice and abdominal distension over following weeks. HISTORY OF PRESENTING ILLNESS.
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Early Warning Signs The sudden onset of symptoms on Day 5— exactly 48 hours after starting milk intake— is a critical clinical clue. •Vomiting: Post-prandial, leading to dehydration. •Poor Feeding: Likely due to underlying metabolic distress. •Weight Loss: Failure to thrive in the early neonatal period. POOR FEEDING AND VOMITING.
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PROGRESSIVE JAUNDICE Icterus Pathophysiology Jaundice in this patient is progressive and cholestatic in nature. The metabolic blocks in galactose processing lead to direct hepatocyte injury. •Yellow sclera (eyes) •Yellowish tint to skin •Dark urine / Pale stools (signs of cholestasis).
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Hepatosplenomegaly Physical examination at 4 months revealed significant enlargement of both the liver and spleen. •Liver: Firm, palpable edges below the costal margin. •Spleen: Enlargement suggests portal hypertension or storage-related congestion. •Ascites: May be present in advanced cases of liver failure. LIVER AND SPLEEN ENLARGEMENT.
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Rh+ Positive (Mother & Baby) Differential Logic Since both mother and baby are Rh positive, hemolytic disease of the newborn (Rh isoimmunization) is effectively ruled out. This directs focus toward metabolic or structural causes of jaundice. Conclusion: Hemolysis is not the primary driver of this infant's presentation. RULING OUT RH INCOMPATIBILITY.
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Primary Diagnosis Classic Galactosemia An autosomal recessive disorder of galactose metabolism caused by the deficiency of the GALT enzyme..
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Metabolic Blockade: Toxic Accumulation Galactose-1-Phosphate builds up in tissues, causing direct cellular toxicity in the liver and brain. Galactitol Formation Excess galactose is converted to galactitol via aldose reductase, leading to osmotic damage in the lens (cataracts). DISEASE PATHOPHYSIOLOGY.
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Test Category Finding in Patient Clinical Significance Urine Analysis Reducing Substances Positive Detects sugars other than glucose (Galactose). Liver Function Elevated Conjugated Bilirubin Indicates hepatocellular damage and cholestasis. Enzyme Assay Low/Absent GALT Activity Confirmatory gold standard for diagnosis. Sepsis Screen May be positive for E. coli Increased risk of gram-negative sepsis in patients. DIAGNOSTIC INVESTIGATIONS.
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Ocular Development of oil-drop cataracts due to galactitol accumulation. Infectious Specifically prone to neonatal E. coli sepsis. Hepatic Liver failure, cirrhosis, and potential coagulation defects. SYSTEMIC COMPLICATIONS.
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Lactose-Free Diet The cornerstone of management is the lifelong exclusion of lactose and galactose. Stop Breastfeeding: Immediate cessation is required. Soy Formula: Use as the primary nutritional source. Screening: Frequent ocular and developmental follow-ups. MANAGEMENT AND THERAPY.
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Day 0-3 Normal delivery. Breast-feeding begins on Day 3. Day 5 Vomiting and poor feeding initiat e. Month 1 Jaundice develops and becomes progressive. Month 4 Admission with hepatosplenomegaly and liver failure. TIMELINE OF CASE PROGRESSION.
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Questions ? Thank you for your attention to this clinical case study. Case Reference: Pediatric Metabolic Disorders - Case 402 Medical Education Series 2024.
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