遗传性压迫易感性神经病临床、病理及遗传学研究（附11例报道）

Hereditary neuropathy with liability to pressure palsies： a clinical, pathological and genetic study of 11 cases

目的通过研究遗传性压迫易感性神经病（HNPP）患者的临床、电生理、病理及基因突变特点，以提高对本病的认识及诊断水平。方法选取自1999年3月至2014年12月首都医科大学宣武医院神经内科收治的11例HNPP患者进行临床和体征资料采集、神经电生理检查、腓肠神经活检、家系资料收集，并对先证者进行HNPP相关基因检测。结果本组11例患者中8例患者来自2个家系，家系1及家系2分别各有4例，符合常染色体显性遗传模式；另3例患者为散发病例。大部分患者在青少年发病，临床特征表现为局灶性单神经病，多于数天至数月内自行缓解。神经电生理检查有四肢广泛的运动及感觉神经传导速度减慢，于易嵌压部位神经传导速度减慢更明显。4例腓肠神经活检髓鞘染色均显示部分有髓纤维髓鞘脱失，轴索多正常，部分有髓纤维髓鞘增厚，形成＂洋葱球样＂改变，单神经剥离呈腊肠样。2例经基因检测存在17P11.2的周围神经髓鞘蛋白22（PMP22）基因区域连续性缺失突变。结论HNPP临床所表现的反复发生的与压迫有关的单神经麻痹很具有特征性，多呈典型的常染色体显性遗传，神经电生理检查在无症状的肢体也能检测到不同程度的神经传导速度减慢，周围神经活检可见髓鞘增生，基因检测发现特异位点的基因突变可确定诊断。

Objective To study the clinical, electrophysiological, athological and genomic features of hereditary neuropathy with liability to pressure palsies （HNPP） and increase the understanding and diagnostic level of this disease. Methods Eleven patients with HNPP, met Gouider diagnostic criteria and admitted to our hospital from March 1999 to December 2014, accepted detailed clinical examinations, electromyogram, sural nerve biopsies. Multiplex ligation-dependent probe amplification was used to detect peripheral myelinprotein 22（PMP22） gene deletion on chromosome 17P 11.2. Results Eight patients came from two families and it was consistent with automsomal dominant inheritance. Age at onset was on teen-agers. Clinical manifestations were characterized by recurrent mononeruopathies. Symptoms often disappeared spontaneously after a few days or a few months. Nerve conduction studies showed a sensori-motor demyelinating polyneuropathy with conduction abnormalities preferentially localized at common entrapment sites. The nerve biopsy showed the presence of some large thickened myelinated fibers, but the axons were normal. Gene mutation analysis showed that two patients had large fragment tandem deletions containing PMP22. Conclusions Although HNPP is concerned with heredity, there are also some sporadic cases to be found. Electrophysiologic examination is an important screen method. The definitive diagnosis is dependent on PMP22 mutation detection.