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Published on: December 15, 2011
Adult polyglucosan body disease
P Milde1, J G Guccion, J Kelly
1Department of Dermatopathology, Armed Forces Institute of Pathology, Washington, DC, USA.
Adult polyglucosan body disease (APBD) presents with neurological and autonomic dysfunction. Skin biopsy offers a less invasive diagnostic alternative to nerve biopsy for APBD.
Area of Science:
- Neurology
- Pathology
- Genetics
Background:
- Adult polyglucosan body disease (APBD) is a rare genetic disorder.
- It is characterized by progressive neurological deficits, including peripheral neuropathy, upper motor neuron signs, and autonomic dysfunction.
Observation:
- A case study detailing a patient with APBD presenting with typical clinical symptoms.
- Diagnostic findings from sural nerve biopsy revealed intra-axonal polyglucosan bodies under electron microscopy.
- Inclusions were identified as branched filaments (6-8 nm) primarily within myelinated nerve fibers.
Findings:
- Skin biopsy from the axilla confirmed the diagnosis by showing similar polyglucosan inclusions in myoepithelial cells of apocrine glands.
- This supports skin biopsy as a diagnostic method for APBD.
Implications:
- Skin biopsy may serve as a less invasive and simpler diagnostic alternative compared to sural nerve or brain biopsies for APBD.
- This finding could potentially simplify the diagnostic pathway for patients with suspected APBD.
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