Abstract

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.