Adult polyglucosan body disease (APBD).
Three patients aged 63, 63 and 74 years had various combinations of progressive lower and upper motor neuron dysfunction, sensory loss, urinary incontinence and dementia. Postmortem examinations in two cases showed moderate cerebral and spinal atrophy, ill-defined areas of incomplete myelin loss in white matter and small necrotic foci in the white matter of gyri, around the basal ganglia and near the dentate nuclei. The main microscopic abnormality was a massive accumulation of PAS-positive polyglucosan bodies (PB) of various sizes and shapes in the cerebral hemispheres, brainstem, cerebellum, spinal cord, nerve roots and nerves. These PB were found in the processes of nerve cells and astrocytes, but not in their perikarya. Similar PB were present in peripheral nerves and in the lungs, heart, liver and kidneys. In the third case, a nerve biopsy revealed several, unusually large, PB in the axons of myelinated fibers. These clinicopathologic features are consistent with adult polyglucosan body disease (APBD) and are distinctive from other conditions in which PB may accumulate. Twelve similar cases have been reported previously. The diagnosis can be made by nerve biopsy. The pathogenesis of APBD is not known, but it may be a polysaccharide storage disease.
Gray
F
F
Département de Pathologie (Neuropathologie), Hôpital Henri Mondor, Créteil, France.
Gherardi
R
R
Marshall
A
A
Janota
I
I
Poirier
J
J
D000368:Aged; D001921:Brain / Q000473:pathology; D003704:Dementia / Q000150:complications* / Q000473:pathology; D005260:Female; D005936:Glucans / Q000378:metabolism*; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism* / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009186:Myelin Sheath / Q000648:ultrastructure; D009420:Nervous System / Q000473:pathology; D009422:Nervous System Diseases / Q000150:complications / Q000473:pathology; D009468:Neuromuscular Diseases / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D012677:Sensation; D001750:Urinary Bladder, Neurogenic / Q000150:complications*
D005936:Glucans