首页> 美国卫生研究院文献>Case Reports in Neurology >Two Cases of Elderly-Onset Hereditary Neuropathy with Liability to Pressure Palsy Manifesting Bilateral Peroneal Nerve Palsies
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Two Cases of Elderly-Onset Hereditary Neuropathy with Liability to Pressure Palsy Manifesting Bilateral Peroneal Nerve Palsies

机译:2例老年性遗传性神经病伴有压迫性麻痹表现为双侧腓总神经麻痹

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摘要

Hereditary neuropathy with liability to pressure palsy (HNPP) is characterized by recurrent focal neuropathies, which usually become symptomatic in the second or third decade of life. However, clinical phenotypic heterogeneity among patients with HNPP has recently been reported. Certain patients show polyneuropathy-type diffuse nerve injuries, whereas others remain asymptomatic at older ages. We present two cases of elderly-onset bilateral peroneal nerve palsies with diffuse muscle weakness in the lower limbs and glove-and-stocking type sensory disturbance. Both patients were diagnosed with HNPP by genetic analyses that detected deletions of chromosome 17p11.2 in peripheral myelin protein 22 genes. Their clinical courses suggested that the Japanese sitting style termed ‘seiza’, a way of sitting on the floor with the lower legs crossed under the thighs, was a precipitating factor for the bilateral peroneal nerve palsies.
机译:伴有压力性麻痹(HNPP)的遗传性神经病的特征是复发性局灶性神经病,这种病通常在生命的第二个或第三个十年出现症状。然而,最近已报道了HNPP患者的临床表型异质性。某些患者表现出多发性神经病类型的弥漫性神经损伤,而其他患者则在较大年龄时无症状。我们介绍了两例老年发作的双侧腓神经神经麻痹,下肢弥漫性肌无力和手套和袜类感觉障碍。两名患者均通过基因分析诊断为HNPP,该基因分析检测到了外周髓磷脂蛋白22基因中17p11.2号染色体的缺失。他们的临床课程表明,日本人称为“ seiza”的坐姿是小腿交叉在大腿下方的一种坐在地板上的方式,这是双侧腓总神经麻痹的诱因。

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