Neonatal presentation of a rare metabolic liver disease.
Tyrosinemia is a rare paediatric metabolic liver disorder. A 15-days-old neonate born of a third degree consanguineous marriage presented with jaundice due to tyrosinemia, which progressed to fatal hepatic encephalopathy. The diagnosis was based on very high alpha-fetoprotein level, with urine aminoacidogram revealing tyrosine spot and liver biopsy depicting cirrhosis. Very early neonatal presentation and rapid progression were the unusual features of this case.
David
Jane J E
JJ
Department of Paediatrics & Gastroenterology, TN Medical College & BYL Nair Hospital, Mumbai Central, Mumbai 400 008, India.
Tullu
Milind S
MS
Rathi
Pravin
P
Sawalakhe
Niraj
N
Ghildiyal
Radha G
RG