Introduction: Rhabdomyolysis is a syndrome characterised by the destruction of muscle fibres which results in the release of toxic intracellular metabolites into the circulatory system. It usually has a benign progression but can have serious, potentially fatal, complications that largely depend on the cause. Disorders affecting the metabolism of energy in muscles can manifest as recurring rhabdomyolysis, which usually has kidney failure as its most common complication.
Case report: An 8 year old girl who had suffered an episode of rhabdomyolysis one year earlier and later died in the Paediatric Intensive Care Unit while suffering from acute symptoms of rhabdomyolysis and refractory shock. A muscular biopsy specimen was collected, but it was not possible to establish a diagnosis from that sample.
Conclusions: Even with all today's progress in the biochemical, molecular and genetic fields, the cause of recurring rhabdomyolysis is not easy to identify. What stands out in this case is the fatal progression of a usually benign problem, whose most serious complication is considered to be the delayed production of kidney failure when there is severe decompensation that does not receive adequate treatment. We recommend having guidelines set out for the correct collection, preparation and storage of the biological samples needed for the biochemical, enzymatic, immunohistochemical and DNA studies that can provide a diagnosis when death due unknown causes occurs. We emphasise the fact that it is the doctor's duty and right to exhaust all the diagnostic possibilities available.