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两例迟发型遗传性压力易感性周围神经病表现为双侧腓总神经麻痹。

Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies.

作者信息

Kawaguchi Norihiko, Suzuki Naoki, Tateyama Maki, Takai Yoshiki, Misu Tatsuro, Nakashima Ichiro, Itoyama Yasuto, Aoki Masashi

机构信息

Department of Neurology, School of Medicine, Tohoku University, Sendai, Japan.

出版信息

Case Rep Neurol. 2012 Sep;4(3):149-55. doi: 10.1159/000342132. Epub 2012 Oct 25.

Abstract

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.

摘要

遗传性压力易感性周围神经病(HNPP)的特征是复发性局灶性神经病,通常在生命的第二个或第三个十年出现症状。然而,最近报道了HNPP患者之间的临床表型异质性。某些患者表现为多神经病型弥漫性神经损伤,而另一些患者在老年时仍无症状。我们报告了两例老年起病的双侧腓总神经麻痹病例,伴有下肢弥漫性肌肉无力和手套-袜套型感觉障碍。通过基因分析检测到外周髓鞘蛋白22基因中17p11.2染色体缺失,两名患者均被诊断为HNPP。他们的临床病程表明,日本称为“正坐”的坐姿,即一种小腿交叉在大腿下坐在地板上的方式,是双侧腓总神经麻痹的一个诱发因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13e0/3506036/6b829f1904ca/crn-0004-0149-g01.jpg

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