<p><span>This article has no abstract. The first 100 words appear below:</span></p><p>A 3 year old girl, 3^rd issue of consanguineous parents from the Feni District (south part of Bangladesh) immunized as per EPI schedule presented at the outpatient department with the history of progressive abdominal distension and not growing well since birth. She had also the history of developmental delay and recurrent respiratory tract infection. Still she can not stand without the support and unable to make a sentence completely. Her brother died at 5 months of age with abdominal distention with unknown cause. She had no history of jaundice, hematemesis, melena, convulsion and craving for food.</p>

not available DS (Child) H J 2018; 34(1) : 55-58

Tyrosinemia Type 1 is a rare inherited metabolic disorder attributable to a deficiency of enzyme fumaryl acetoacetate hydrolase. It has an autosomal recessive pattern of inheritance. It often presents with liver disease or liver failure with predominant bleeding tendencies, Fanconi syndrome and or rickets with neurological crisis. Diagnosis is based on clinical features, increased tyrosine and methionine in plasma and the presence of succinylacetone in urine. Untreated patient develops liver failure, cirrhosis and hepatocellular carcinoma and end stage of renal failure. Here we describe a 9 months old infant presented with massive ascites with hepatosplenomegaly, coagulopathy and hypoalbuminemia. The diagnosis of tyrosinemia type 1 was confirmed based on clinical and biochemical findings. We highlight the need for early diagnosis and initiating treatment at the earliest which improves the quality of life in these patients. Here we report a nine month old male infant presented with abdominal distension, hepatomegaly and ascities diagnosed as Tyrosinemia Type 1. Bangladesh J Child Health 2019; VOL 43 (3) :174-176