Adult polyglucosan body disease.
We describe a case of adult polyglucosan body disease with characteristic clinical symptoms of peripheral neuropathy, upper motor neuron signs, and bowel and bladder dysfunction. Sural nerve biopsy revealed diagnostic intra-axonal polyglucosan bodies. On electron microscopic examination, the inclusions were located mainly within myelinated nerve fibers and consisted of branched filaments that were 6 to 8 nm wide. The diagnosis of adult polyglucosan body disease was confirmed by a skin biopsy from the axilla showing similar inclusions in myoepithelial cells of apocrine glands. This report provides additional evidence that skin biopsy, to date advocated by a single case report only, may be a less invasive and simpler diagnostic alternative to sural nerve or brain biopsies.
Department of Dermatopathology, Armed Forces Institute of Pathology, Washington, DC, USA.
P
P
Milde
J G
JG
Guccion
J
J
Kelly
E
E
Locatelli
R V
RV
Jones
D001050:Apocrine Glands / Q000378:metabolism / Q000473:pathology; D001369:Axons / Q000378:metabolism / Q000648:ultrastructure; D001480:Basal Ganglia Diseases / Q000175:diagnosis* / Q000378:metabolism; D001706:Biopsy; D005936:Glucans / Q000378:metabolism*; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000473:pathology; D013497:Sural Nerve / Q000378:metabolism / Q000473:pathology*
D005936:Glucans