Abstract
A 61-year-old man with repeated numbness of the legs since his 30s, whose father had similar symptoms, developed progressive muscle weakness, distal sensory impairment and an unstable gait. Deletion of the PMP22 gene was identified and he was diagnosed with hereditary neuropathy with liability to pressure palsy (HNPP). The nerve conduction study showed mixed type neuropathies, and needle-electromyography (n-EMG) showed positive sharp waves and fibrillation potentials, which are uncommon findings of HNPP. As severe hypothyroidism was also indicated, hormone replacement was started. The n-EMG abnormalities and motor symptoms were remarkably improved after treatment. Hypothyroidism might be a risk factor for the worsening of neuropathies of HNPP.
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