David Jane J E, Tullu Milind S, Rathi Pravin, Sawalakhe Niraj, Ghildiyal Radha G
Department of Paediatrics & Gastroenterology, TN Medical College & BYL Nair Hospital, Mumbai Central, Mumbai 400 008, India.
Trop Gastroenterol. 2008 Oct-Dec;29(4):229-31.
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.
酪氨酸血症是一种罕见的儿科代谢性肝脏疾病。一名15天大的新生儿，其父母为三级近亲结婚，因酪氨酸血症出现黄疸，进而发展为致命性肝性脑病。诊断依据为甲胎蛋白水平极高，尿氨基酸图谱显示酪氨酸斑点，肝脏活检显示肝硬化。该病例的不寻常特征为新生儿期极早期发病和快速进展。
