Childhood-onset spinocerebellar syndrome associated with massive polyglucosan body deposition.

INTRODUCTION

Polyglucosan body disease (PBD) is a progressive neurological disorder beginning in adult life and associated pathologically with widespread accumulation of polyglucosan bodies (PB) in neuronal and astrocytic processes. We report the unique clinicopathological findings in an early onset spinocerebellar syndrome associated with massive PB deposition.

PATIENT & METHODS: A 14-month-old male developed a slowly progressive neurological disorder characterized by distally predominant weakness and sensory loss, urinary bladder incontinence, and cerebellar signs. He died at age 62 years from pneumonia. We report the clinical and autopsy findings.

RESULTS

The autopsy findings were remarkable 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.