| Popis: |
A 12-year-old developed a slowly progressive spastic gait at the age of 3. A marked loss of pain and temperature sensations led to a mutilating acropathy starting at age 5. Electrodiagnostic studies revealed a symmetric, axonal, predominantly sensory neuropathy, and magnetic resonance imaging ruled out compression of spinal cord. Sural nerve biopsy disclosed a predominant involvement of unmyelinated and a global loss of myelinated fibers, particularly larger ones. Clinical, electrodiagnostic and pathological findings of this case most likely represent an example of the "Cavanagh's variant", an unusual but distinct entity within the hereditary sensory and autonomic neuropathies. |
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