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HEREDITARY TYROSINEMIA A CASE REPORT

ABHISHEK KHURANA

Abstract


ABSTRACT 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

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