Corpora Amylacea and Unexpected Death: A Case of Adult Polyglucosan Body Disease Diagnosed at Forensic Autopsy

Abstract

Adult polyglucosan body disease (APBD) is a rare neurodegenerative condition characterized by typical onset in middle age, progressive neurological impairment that is heterogeneous between cases, and death within 1-14 years of diagnosis. The histopathologic hallmark of the disease is massive deposition of corpora amylacea (designated polyglucosan bodies in this context) in the central nervous system, and variable deposition of similar material in other sites. While the cause of the disease is as yet unknown, recent research has identified mutations in proteins involved in glycogen metabolism in a subset of cases. In this paper, we present a case of unexpected death wherein APBD was diagnosed at forensic autopsy. This represents the first report of an unexpected death due to this disease reported in the medical and forensic literature.