A Case of Adult Polyglucosan Body Disease
نویسندگان
چکیده
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.
منابع مشابه
Case Report Adult polyglucosan body disease with reduced glycogen branching enzyme activity and heterozygous GBE1 mutation mimicking a low-grade glioma
Adult polyglucosan body disease (APBD) is a rare neurologic disease characterized clinically by progressive upper and lower motor neuron dysfunction, neurogenic bladder, distal sensory loss, cerebellar dysfunction and dementia, while histologically featured by diffuse accumulation of polyglucosan bodies throughout the nervous system and in other organs. In some cases, this entity has been prove...
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