Unusual First Presentation of a Metabolic Disorder

Overview

Journal BMJ Case Rep

Specialty General Medicine

Date 2019 Mar 25

PMID 30904888

Citations 1

Authors

Claire Emma Strauss

Gayle Hann

Affiliations

Soon will be listed here.

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.

Citing Articles

Hereditary Tyrosinemia Compounded With Hyperinsulinemic Hypoglycemia: Challenging Diagnosis of a Rare Case.

Nasir S, Raza M, Siddiqui S, Saleem A, Abbas A Cureus. 2020; 12(11):e11541.

PMID: 33365210 PMC: 7748566. DOI: 10.7759/cureus.11541.

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