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本文引用的文献

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Clinical and electrodiagnostic features of sciatic neuropathies.坐骨神经病变的临床及电诊断特征
Phys Med Rehabil Clin N Am. 2013 Feb;24(1):107-20. doi: 10.1016/j.pmr.2012.08.023. Epub 2012 Oct 31.
2
A report of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy: the value of complete electrodiagnostic testing.一例表现为臂丛神经病的遗传性压力易感性周围神经病(HNPP)报告:完整电诊断检测的价值
Am J Electroneurodiagnostic Technol. 2011 Sep;51(3):183-90.
3
HNPP presenting as sciatic neuropathy.表现为坐骨神经病变的遗传性压迫易感性神经病
J Peripher Nerv Syst. 2005 Mar;10(1):1-2. doi: 10.1111/j.1085-9489.2005.10102.x.
4
Hereditary neuropathy with liability to pressure palsies in childhood: report of a case and a brief review.儿童期易患压迫性麻痹的遗传性神经病:1例报告及简要综述
Brain Dev. 2005 Mar;27(2):152-4. doi: 10.1016/j.braindev.2003.12.005.
5
Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies.臂丛神经受累作为遗传性压力易感性神经病的唯一表现。
Muscle Nerve. 2001 Aug;24(8):1093-6. doi: 10.1002/mus.1116.
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Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies.
Neuromuscul Disord. 2000 Mar;10(3):206-8. doi: 10.1016/s0960-8966(99)00103-0.
7
Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy.急性无痛性单神经病或臂丛神经病患者中遗传性压力易感性神经病的检测
Muscle Nerve. 1998 Dec;21(12):1686-91. doi: 10.1002/(sici)1097-4598(199812)21:12<1686::aid-mus10>3.0.co;2-z.
8
DNA deletion associated with hereditary neuropathy with liability to pressure palsies.与遗传性压力易感性周围神经病相关的DNA缺失。
Cell. 1993 Jan 15;72(1):143-51. doi: 10.1016/0092-8674(93)90058-x.

表现为坐骨神经病变的遗传性压力易感性周围神经病

Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.

作者信息

Topakian Raffi, Wimmer Sibylle, Pischinger Barbara, Pichler Robert

机构信息

Department of Neurology, Klinikum Wels-Grieskirchen, Wels, Austria.

Institute of Radiology, Wagner-Jauregg Hospital, Linz, Austria.

出版信息

BMJ Case Rep. 2014 Oct 17;2014:bcr2014206883. doi: 10.1136/bcr-2014-206883.

DOI:10.1136/bcr-2014-206883
PMID:25326571
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4202070/
Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. He had no history of preceding transient episodes of weakness or sensory loss. Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing.

摘要

遗传性压力易感性周围神经病(HNPP)是一种常染色体显性疾病,与受压或轻微创伤后反复出现的单神经病相关。以坐骨神经病变作为HNPP首发表现的报道非常少见。我们报告一例21岁既往健康男性,因左腿感觉运动功能障碍入院。他既往没有短暂性肌无力或感觉丧失发作史。临床及电生理检查结果符合坐骨神经病变。脑脊液检查以及神经根、神经丛和坐骨神经的MRI检查均未提示潜在病因。当扩展电生理检查发现上肢存在多处亚临床型压迫性神经病变时,考虑为HNPP,最终经基因检测得以确诊。