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Case Reports
. 2011;11(1):64-7.

Tyrosinemia Typel: A case report

Mohmood M Rashad  1 , Carmen Nassar  1
Affiliations
Case Reports

Tyrosinemia Typel: A case report

Mohmood M Rashad et al. Sudan J Paediatr. 2011.

Abstract

Tyrosinemia type 1 is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase enzyme. Here we report an eight month-old male Saudi infant who presented with jaundice, fever, and disturbed level of consciousness accompanied by abdominal distension, hepatomegaly and ascites with features suggestive of rickets. The diagnosis of tyrosinemia typ 1was confirmed based on clinical and biochemical findings.

Keywords: Child; Inherited metabolic disorder; Saudi Arabia; Tyrosinemia type I.

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Figures

Figure 1
Figure 1
The patient with tyrosinemia type 1. Note the abdominal distension and visible veins.
Figure 2
Figure 2
Abdominal ultrasonography of the patient showing multiple hepatic hyperechoic masses and ascites.
Figure 3
Figure 3
(A) Abdominal CT of the patient revealed multiple hepatic rounded hyperdense masses and splenomegaly. (B) Brain CT showed bifrontal cerebral atrophy.
Figure 3
Figure 3
(A) Abdominal CT of the patient revealed multiple hepatic rounded hyperdense masses and splenomegaly. (B) Brain CT showed bifrontal cerebral atrophy.
See this image and copyright information in PMC

References

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