Adult polyglucosan antibody disease. Case report with predominant involvement of the central and peripheral nervous system and branching enzyme defect in leukocytes]

We describe a 46 year old patient with adult polyglucosan body disease (APBD). She presented clinically with late onset pyramidal tetraparesis, sensory motor polyneuropathy and micturition difficulties. Magnetic resonance imaging of the brain revealed extensive leucencephalopathy and diffuse atrophy. The diagnosis based on the demonstration of polyglucosan bodies in the sural nerve biopsy. In search of a possible metabolic defect, we evaluated glycogen metabolism in this patient and her clinically unaffected daughters. Branching enzyme activity in the patients leukocytes was between 20-30% of the lower limit of normal range, whereas their children displayed values of 80%, suggesting a possible autosomal recessive mode of transmission. Branching enzyme deficiency in APBD with predominantly attack of the central and peripheral nervous system was so far described in 3 Jewish patients.