Presentation
Progressive tetraparesis.
Patient Data
There is marked medullary and spinal cord atrophy.
Hyperintense lesions on T2/FLAIR are seen in the supratentorial white matter, predominantly confluent, periventricular and posterior, posterior limb of the internal capsule, pyramidal tracts, and medial lemniscus.
Case Discussion
This is a confirmed case of adult polyglucosan body disease (APBD). Exome demonstrated glycogen branching enzyme (GBE) deficiency.
APBD with glycogen branching enzyme (GBE) deficiency, with occasional exceptions, is a clinically homogenous disorder that should be suspected in patients with adult-onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy.
Magnetic resonance imaging shows medullary and spinal cord atrophy, white matter lesions, usually confluent, involvement of the posterior limb of the internal capsule, pyramidal tract, and medial lemniscus, among other findings.
This case was kindly provided by Dr. Daniele Fricke.
Unable to process the form. Check for errors and try again.