Teaching Neuro Images : Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease

Abstract

A 48-year-old man of Ashkenazi Jewish descent developed neurogenic bladder and mild cognitive dysfunction. Neurologic examination and CSF analysis were unremarkable. Brain MRI demonstrated white matter changes in the internal capsule, optic radiations, mesencephalon, superior cerebellar peduncles, pons, and medulla (figure 1) and prominent medullary and spinal cord atrophy (figure 2). These findings are classically found in adult polyglucosan body disease (APBD).1 Glycogen branching enzyme GBE1 gene sequencing revealed that the patient was compound heterozygous (c.691+2T>C and c.986 A>C). APBD should be considered in patients with adult-onset leukodystrophy and spinal atrophy; genetic testing is crucial to prevent misdiagnosis with multiple sclerosis and other leukodystrophies.2