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Pediatric Radiology

, Volume 26, Issue 12, pp 845–851 | Cite as

Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients

  • Josée Dubois
  • Laurent Garel
  • Heidi Patriquin
  • Khazal Paradis
  • Sylviane Forget
  • Denis Filiatrault
  • Andrée Grignon
  • Pierre Russo
  • Dickens St-Vil
Article

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

Liver Transplantation Portal Hypertension Rickets Glycogen Storage Disease Nephrocalcinosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Josée Dubois
    • 1
  • Laurent Garel
    • 1
  • Heidi Patriquin
    • 1
  • Khazal Paradis
    • 2
  • Sylviane Forget
    • 2
  • Denis Filiatrault
    • 1
  • Andrée Grignon
    • 1
  • Pierre Russo
    • 3
  • Dickens St-Vil
    • 4
  1. 1.Department of RadiologyHôpital Sainte-JustineMontrealCanada
  2. 2.Department of Pediatrics, Gastroenterology, DivisionHôpital Sainte-Justine, Université de MontréalMontrealCanada
  3. 3.Department of PathologyHôpital Sainte-JustineMontrealCanada
  4. 4.Department of SurgeryHôpital Sainte-JustineMontrealCanada

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