|
|||||
|
|
Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients |
|
| Authors: | Josée Dubois Laurent Garel Heidi Patriquin Khazal Paradis Sylviane Forget Denis Filiatrault Andrée Grignon Pierre Russo Dickens St-Vil |
| Institution: | 1. Department of Radiology, H?pital Sainte-Justine, 3175 C?te-Ste-Catherine, H3T1C5, Montreal, Quebec, Canada 2. Department of Pediatrics, Gastroenterology, Division, H?pital Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada 3. Department of Pathology, H?pital Sainte-Justine, Montreal, Quebec, Canada 4. Department of Surgery, H?pital Sainte-Justine, Montreal, Quebec, Canada |
| Abstract: | Hereditary tyrosinemia type 1, a common genetic disorder in the province of Quebec, is characterized by a deficiency of fumarylacetoacetate hydrolase. In this autosomal recessive disorder of tyrosine metabolism, the accumulation of succinyiacetone leads to neurologic crises, acute and chronic liver failure, complex renal tubulopathy, rickets and a hemorrhagic syndrome. Liver transplantation has dramatically modified the spontaneous course of this lethal disease. The present paper describes the imaging features of tyrosinemia in 30 patients followed from 1980 to 1995 at Hôpital Sainte-Justine, Montreal, Canada. |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |