A case of adult polyglucosan body disease

Abstract

Adult polyglucosan body disease (APBD) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, neurogenic bladder, and cognitive impairment. APBD is confirmed by a sural nerve biopsy that shows the widespread presence of polyglucosan bodies in the nerve. We report a 70 year old male patient who exhibited progressive weakness in all extremities and dementia. His electrodiagnostic studies showed sensorimotor polyneuropathy and muscle pathology that consisted of polyglucosan bodies located in small peripheral nerves. This is the first case of APBD reported in Korea.

Fig. 1

Magnetic resonance imaging of the brain showed diffuse white matter ischemic changes in bilateral deep parietal area (A and B), and focal increased signal intensity at left side dentate nucleus of cerebellum (C).

Fig. 2

Pathological findings revealed a few polyglucosan bodies in peripheral nerves of perimysium (A & B) (× 400).