Short CommunicationAbnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease

BackgroundA 45-year old woman of Cambodian ethnic background presented with fatal respiratory failure due to a severe diaphragmatic dysfunction. Two years before, she had developed early onset of urinary symptoms.Methods and resultsNeuroimaging showed atrophy of the spine and medulla as well as a leukodystrophy affecting both supra- and infra-tentorial regions. At autopsy, polyglucosan bodies (PB) were seen in several peripheral tissues, including the diaphragm, and nervous tissues such as peripheral nerves, cerebral white matter, basal ganglia, hippocampus, brainstem and cerebellum. Immunohistochemistry and electron microscopy of the brain revealed an exclusive astrocytic localization of the PB. The diagnosis of adult polyglucosan body disease (APBD) was confirmed by enzymatic and molecular studies.ConclusionStorage of abnormal glycogen in astrocytes is sufficient to cause the leukodystrophy of APBD. Since brain glycogen is almost exclusively metabolized in astrocytes, this observation sheds light on the pathophysiology of APBD. In addition, this is the first report of an APBD patient presenting with a subacute diaphragmatic failure.

► We diagnosed a 45-year old woman with adult polyglucosan body disease (APBD). ► The patient died from a severe diaphragmatic dysfunction. ► At autopsy, polyglucosan bodies were abundant in the diaphragm. ► In the brain, polyglucosan bodies were exclusively present in astrocytes. ► Abnormal glycogen in astrocytes is sufficient to cause the leukodystrophy of APBD.