Olive, Thomas (Tom) Andrew

4y · Male·Severe rhabdomyolysis due to LPIN1 gene mutation

Tom Olive, aged 4, died from severe rhabdomyolysis caused by a rare LPIN1 gene mutation. Over 12 months before death, he presented with recurrent episodes of dark urine, muscle pain, and lethargy. Multiple GPs and a paediatrician investigated but failed to recognise the pattern. On 30 June 2010, he presented to hospital with dark urine and abnormal urinalysis (blood and protein positive, but no red blood cells on microscopy), suggesting myoglobin rather than haematuria. The critical discharge letter outlining follow-up was never delivered, and abnormal results were not reviewed together. On 25 August, Tom presented in acute rhabdomyolysis crisis with severe hyperkalemia and arrested. While the resuscitation was appropriate, earlier recognition of rhabdomyolysis could have prompted metabolic investigations and management protocols. The fundamental failures were communication gaps: the discharge letter not reaching the GP, pathology results not being reviewed in context, and the preceding history not triggering consideration of metabolic disease despite atypical presentations.