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An all-consuming case
  1. E Jameson2,
  2. P Rawling1,
  3. D Thiruchunapalli3,
  4. J Stahlschmidt4,
  5. S Frazer1
  1. 1Bradford Teaching Hospitals NHS Foundation Trust, Bradford, Yorkshire, UK
  2. 2Royal Manchester Children's Hospital, Manchester, UK
  3. 3Leeds Radiology Academy, Leeds, UK
  4. 4St James's University Hospital, Leeds, UK
  1. Correspondence to Dr Simon Frazer, Bradford Royal Infirmary, Duckworth Lane, Bradford, Yorkshire BD9 6RJ, UK; simon.frazer{at}


This is a case of a 6-month-old child who presented to the local paediatric department with a relatively short history of developmental regression, hypotonia, weight loss, irritability and hepatosplenomegaly. The child then proceeded to spike temperatures up to 39°C.

The case demonstrates the logical investigative process involved in such a case and discusses the differential diagnoses at each stage. It also highlights the importance of multi-specialty work in complex cases and the potential consequence of premature closure of diagnosis.

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  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Commissioned; externally peer reviewed.