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Case Reports
. 2019 Mar 22;12(3):e226716.
doi: 10.1136/bcr-2018-226716.

Unusual first presentation of a metabolic disorder

Claire Emma Strauss  1 , Gayle Hann  2
Affiliations
Case Reports

Unusual first presentation of a metabolic disorder

Claire Emma Strauss et al. BMJ Case Rep. .

Abstract

An 8-month-old boy presented to hospital with a fever, irritability and 'back arching'. On examination, he demonstrated profound opisthotonic posturing and had tonsillitis. He had a full septic screen and was treated with broad spectrum antibiotics. Blood tests showed a transaminitis, raised alpha fetoprotein and deranged clotting. The clotting abnormalities and raised alpha fetoprotein persisted post discharge and an abdominal ultrasound showed steatosis, splenomegaly and bilateral increased renal cortical reflectivity. A full metabolic screen revealed type 1 tyrosinaemia. The opisthotonic posturing, a major part of this child's presentation, has not been reported as a presenting feature of tyrosinaemia. It was part of a 'neurological crisis' caused by tyrosinaemia and exacerbated by the intercurrent infection. These are known to occur in tyrosinaemia but not commonly as the first presentation. This represents an unusual presentation of a metabolic condition which, without intervention, can lead to severe hepatic, renal and neurodevelopmental complications.

Keywords: congenital disorders; metabolic disorders; paediatrics.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
The biochemistry of tyrosinaemia type 1 (adapted from Jacobs et al).
See this image and copyright information in PMC

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