Hereditary neuropathy with liability to pressure palsy emerging after hypothyroidism
Hereditary neuropathy with liability to pressure palsy emerging after hypothyroidism
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甲状腺功能减退后出现压力性麻痹的遗传性神经病
DOI：
10.1111/ncn3.41
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发表时间：
2013
影响因子：
0.4
通讯作者：
Naoki Suzuki and Masashi Aoki
中科院分区：
文献类型：
--
作者：
Kimihiko Kaneko;Naoto Sugeno;Maki Tateyama;Tatsuro Misu;Naoki Suzuki and Masashi Aoki
1例61岁男性，自30多岁以来腿部反复麻木，其父亲有类似症状，出现进行性肌无力、远端感觉障碍和步态不稳。PMP 22基因的缺失被确定，他被诊断为遗传性神经病与压力易感性麻痹（HNPP）。神经传导研究显示混合型神经病变，针肌电图（n-EMG）显示正尖波和纤颤电位，这是HNPP的罕见结果。由于还提示重度甲状腺功能减退症，开始激素替代治疗。治疗后n-EMG异常和运动症状明显改善。甲减可能是HNPP神经病变加重的危险因素。
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 thePMP22gene 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.