title: Mechanisms of unexpected and/or sudden death in Lafora disease.
abstract: A 23-year-old male was found dead wedged between two chairs at his home address. His past history included a diagnosis of Lafora disease (a type of heritable progressive myoclonic epilepsy) at the age of 16 years. This had been characterised by the development of epilepsy and progressive motor impairment and mental deterioration. Diagnosis had been confirmed by demonstration of mutation in the EPM2A gene on chromosome 6q24. At autopsy, petechial haemorrhages were noted of the face and conjunctivae bilaterally. There were no other significant findings apart from gastric contents within the airways. Death was attributed to positional asphyxia complicated by aspiration of gastric contents. Although death in Lafora disease is usually predictable and often protracted, sudden and/or unexpected death may occur and involve status epilepticus, sudden unexpected epileptic death, choking, aspiration of gastric contents, and cardiac arrhythmias. In addition, the possibility exists of unnatural causes of death, such as accidents, provoked by epilepsy or physical inability of the victims to extricate themselves from dangerous situations, or homicides, provoked by difficulties in caring for individuals with significant and progressive disabilities.
authors.affiliation: Forensic Pathology, Forensic Science SA and Department of Histopathology, Women's and Children's Hospital, Adelaide, Australia.
authors.forename: Regula
authors.initials: R
authors.lastname: Wick
authors.forename: Roger W
authors.initials: RW
authors.lastname: Byard
mesh_terms: D000328:Adult; D001237:Asphyxia / Q000209:etiology / Q000473:pathology; D001344:Autopsy; D003645:Death, Sudden / Q000209:etiology* / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D020192:Lafora Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male