Neurofibromatous neuropathy
P K Thomas1, R H King, T R Chiang
1Royal Free Hospital School of Medicine, Queen Square, London, UK.
Muscle & Nerve
|February 1, 1990
Summary
Neurofibromatosis can cause rare chronic distal sensorimotor neuropathy, characterized by enlarged peripheral nerves. Nerve biopsies confirmed neurofibromatous pathology in these patients, highlighting a unique manifestation of the disease.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Neurofibromatosis is a genetic disorder that can lead to tumor formation.
- Peripheral neuropathies are common complications, but specific types can be rare.
Observation:
- Three patients with neurofibromatosis presented with chronic distal sensorimotor neuropathy.
- A key clinical sign was diffuse nodular enlargement of peripheral nerves.
- One patient had neurofibromatosis type 2 with a chromosome 22 deletion.
Findings:
- Nerve biopsies revealed neurofibromatous pathology in all three cases.
- This indicates a link between diffuse neurofibromatous changes and neuropathy.
- Neurofibromatous neuropathy is a rare but distinct manifestation.
Implications:
- Understanding this rare neuropathy improves diagnosis and management of neurofibromatosis complications.
- Further research can elucidate the specific mechanisms linking neurofibromatosis to peripheral nerve pathology.
- This case series contributes to the literature on rare neurological manifestations of genetic disorders.
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