HEREDITARY TYROSINEMIA A CASE REPORT

We report a 10 month old girl with hereditary tyrosinemia. The child had progressive abdominal distension since 3 months of age and delayed gross motor milestones. Chest radiograph and wrist radiograph showed rickets like features, Ultrasound abdomen showed Hepatosplenomegaly, Nephromegaly, with multiple regenerating nodules in the liver and MRI of the liver showed multiple T2 hypointense nodules in the liver. The serum tyrosine and urine tyrosine levels were increased, thereby giving a diagnosis of hereditary tyrosinemia