Adult polyglucosan body disease
| Autor: | Eduardo Locatelli, Petra Milde, Robert Jones, John Kelly, John G. Guccion |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Male
Pathology medicine.medical_specialty Myelinated nerve fiber Biopsy Sural nerve Pathology and Forensic Medicine Basal Ganglia Diseases Sural Nerve Medicine Humans Glucans Skin Inclusion Bodies medicine.diagnostic_test business.industry Myoepithelial cell Apocrine General Medicine Anatomy Adult polyglucosan body disease Middle Aged medicine.disease Axons Medical Laboratory Technology Peripheral neuropathy Apocrine Glands Skin biopsy business |
| Zdroj: | Archives of pathologylaboratory medicine. 125(4) |
| ISSN: | 0003-9985 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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