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Unusual first presentation of a metabolic disorder
  1. Claire Emma Strauss1 and
  2. Gayle Hann2
  1. 1 Paediatrics, North Middlesex University Hospital NHS Trust, London, UK
  2. 2 Paediatric Emergency Department, North Middlesex University Hospital NHS Trust, London, UK
  1. Correspondence to Dr Claire Emma Strauss, claire.strauss{at}


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.

  • paediatrics
  • congenital disorders
  • metabolic disorders

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  • Contributors CES: Initial paediatric clinician to assess patient and author of case report. GH: Paediatric consultant involved in managing the patient. Source of advice for writing up the case. She also provided an editing eye for the piece as it was evolving and suggestions for improvement.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Parental/guardian consent obtained.