CHILDHOOD-ONSET SPINOCEREBELLAR SYNDROME-ASSOCIATED WITH MASSIVE POLYGLUCOSAN BODY DEPOSITION

Introduction - Polyglucosan body disease (PBD) is a progressive neurol ogical disorder beginning in adult life and associated pathologically with widespread accumulation of polyglucosan bodies (PB) in neuronal a nd astrocytic processes. We report the unique clinicopathological find ings in an early onset spinocerebellar syndrome associated with massiv e PB deposition. Patient & methods - A 14-month-old male developed a s lowly progressive neurological disorder characterized by distally pred ominant weakness and sensory loss, urinary bladder incontinence, and c erebellar signs. He died at age 62 years from pneumonia. We report the clinical and autopsy findings. Results - The autopsy findings were re markable for diffuse cortical and cerebellar atrophy, diffuse neuronal loss and gliosis, and massive accumulations of PB within neuronal and astrocytic processes. Conclusion - PBD may begin in childhood.