Revisiting hereditary tyrosinemia Type 1—spectrum of radiological findings

Abstract

Tyrosinemia is a rare metabolic disease showing autosomal recessive inheritance associated with a deficiency of the enzyme fumarylacetoacetate hydrolase. Absence of this enzyme results in the accumulation of succinylacetone in the tissues which predominantly results in liver injury, renal tubular damage, and neurological manifestation resembling porphyrias. The complications that can develop without appropriate treatment include renal tubular dysfunction, growth failure, rickets, neurological crises, hepatomegaly, and possible hepatocellular carcinoma. We describe a case of 18-month-old child who presents with fever and gradually progressive abdominal distension. Laboratory and radiological investigations were done that lead to the diagnosis of this rare entity.