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现将我院2001年12月至2004年6月收治的5例慢性炎症性脱髓鞘性多发性神经病(CIDP)进行分析。本组5例,男2例,女3例,年龄2~13岁,病程2~12个月,病前有上呼吸道感染史2例,3例无明显诱因。2例为慢性复发型,另3例均为缓慢起病,进行性加重。临床表现:首发症状以行走不稳起病2例,双下肢乏力起病1例,四肢活动障碍起病1例,双侧髋关节活动受限1例。体检:对称性双下肢肌力减退4例,肌力2~4级,另1例双上肢肌力减退,肌力0级;双下肢肌萎缩1例。5例均有腱反射减弱或消失,双侧巴氏征阴性,1例咽反射减弱。所有病例均无明显感觉障碍及自主神经功能障碍。实验室…     

幼儿椎管内脊膜瘤伴畸胎瘤一例

患儿,女,1岁3个月.因双下肢无力10 d于2009年4月30日入院.检查:脊柱无畸形,棘突压痛无哭闹,脊柱活动度正常,四肢尤畸形,双上肢肌力正常,双下肢肌力Ⅱ级～Ⅲ级,双下肌张力降低,双下肢触觉、痛觉反射减弱,双侧巴氏征(+).     

发热、颌面部肿胀、下肢瘫痪

病历摘要患儿男,3岁.因双下肢瘫痪1周住院.患儿两周前出现低热、口腔溃疡、左下肢痛,跛行.1周前双下肢瘫痪,无尿便障碍.查体:精神好,营养发育中等,左颌下一蚕豆大淋巴结,软、无压痛,其余浅表淋巴结不大.口腔粘膜溃疡,伸舌左偏,舌肌萎缩,舌颤.咽反射正常,悬雍垂居中.两肺呼吸音清.心音有力.腹软,肝脾未扪及.腹壁、提睾反射正常.上肢肌力正常,双下肢肌力Ⅱ级,肌张力低.膝腱反     

腓骨肌萎缩症患儿周围神经电生理和组织病理学的研究

目的 探讨儿童腓骨肌萎缩症（CMT）的临床特征，分析神经电生理检测和腓肠神经活检在其诊断和分型中的价值。方法 对15例CMT患儿的临床特征，神经电生理及腓肠神经活检结果进行分析。结果 15例中男8例，女7例。15例均表现为慢性进行性以下肢或四肢肌无力和肌萎缩，有家族史者3例。全部病例经神经电生理检查，其中9例行腓肠神经活检，确诊为I型CMT8例；平均起病年龄2．2岁，除1例外7例四肢受累，弓形或内翻足畸形8例，3例合并感觉障碍；5例运动神经传导速度减慢（12－38m/s）；6例腓肠神经活检符合慢性脱髓鞘性周围神经病（中度5例，重度1例），2例有剥洋葱样改变。Ⅱ型7例,平均起病年龄7岁，四肢受累3例，双下肢受累4例，弓形或内翻足畸形5例；7例下肢神经传导检查见复合肌动作电位波幅减低（0．01－0．80mV），3例腓肠神经活检符合慢性轴索神经病。结论 以慢性进行性双下肢或四肢无力和肌萎缩为主要临床特征的儿童腓骨肌萎缩症分为I型（肥大型）和Ⅱ型（轴索型）两个主要亚型。周围神经电生理检查是诊断和区分不同亚型的可靠方法，而腓肠神经活检是进一步明确诊断和分型的客观依据。     

脊髓性肌萎缩症5例

脊髓性肌萎缩症是一种常染色体隐性遗传病。我科收治2例，并发现两个家系中共5例同患此病。现报告如下。例1，女，10a，因四肢无力、进行性加重ga、咳嗽伴发热sd人院。患儿10rno起出现四肢无力，不能坐、站，渐双下肢不能活动。父母体健，非近亲婚配，有弟妹各一人体健。查体：T39．ZC，体重14kg，呼吸36次／min，肌肉萎缩；眼球活动自如，鼻扇，唇组，左胸严重塌陷，两肺闻及中涅罗音，心脏腹部无异常，脊柱右侧凸弯，皮肤感觉存在，四肢肌张力低下，肌力下降：左上肢3级、右上肢2级、双下肢卫级，双侧肌旺反射消失，双足内翻下垂。血清C…     

腓骨肌萎缩症2S型IGHMBP2基因变异1例

患儿男, 6岁4月龄, 因"右下肢跛行5年"于2018年2月就诊于郑州大学附属儿童医院康复医学科。主要临床表现为双下肢无力, 右侧显著。腓肠肌肌张力增高, 跟腱反射未引出, 胸部CT平扫示胸椎侧弯畸形, 肌电图示双下肢及右上肢被检神经及肌肉呈神经源性损伤。基因检测示IGHMBP2基因存在c.1202A>G(p.His401Arg)与c.1693G>A(p.Asp565Asn)2个杂合错义变异, 属于复合杂合变异。诊断为腓骨肌萎缩症2S型。     

婴儿型脊肌萎缩症17例

目的　探讨婴儿型脊肌萎缩症 (SMA Ⅰ )的临床和肌电图特点。方法　总结分析 17例SMA Ⅰ型的临床及肌电图。结果　本病临床特点为 6个月内起病 ,四肢肌张力降低 ,肌力减退 ,肌萎缩不明显 ,肌电图为广泛神经源性损害。结论　肌电图有助于婴儿型脊肌萎缩症的早期诊断     

儿童脊肌萎缩症23例临床特点及遗传学分析

目的 探讨脊肌萎缩症的临床特点和遗传方式。方法 对23例脊肌萎缩症患儿的临床资料进行总结,并用Weiber先证法分析其发病的遗传规律。结果 临床特点为出生后双下肢呈对称性弛缓性瘫痪且进行性加重,四肢近端无力,肌张力、肌力低下;肌电图主要表现为神经原性损害。隐性遗传分离分析表明,12个家系23例患儿发病方式符合常染色体隐性遗传。结论 脊肌萎缩症的临床发病早且病死率高,在遗传咨询中注意作相关产前基因检查,可避免该类患儿的出生。     

急性暴发型肌无力伴呼吸危象持续缓解1例

患儿,女,3岁,因口吃、声音低哑2天伴四肢乏力1天入院。既往史及家族史正常。查体 T37.5℃,呼吸略促,表情淡漠,双眼睑轻度下垂,眼球各方运动稍受限,瞳孔等大,对光反射灵敏,软腭运动差,咽反射减弱,四肢肌力Ⅳ级,腱反射减弱,皮肤感觉正常,病理征未引出。血象白细胞分     

慢性炎症性脱髓鞘性多发性神经病误诊1例

患儿,男,5岁.因双下肢无力1周入院,查体:神清,精神好.心、肺、腹检查无异常.颅神经检查正常,双上肢肌力正常,双下肢肌力V-级,腹壁反射、膝腱反射引出,无感觉异常.     

婴儿期发病的腓骨肌萎缩症家系PMP22基因突变研究

目的：研究一个婴儿期发病的腓骨肌萎缩症（CMT）家系PMP22基因突变,探讨该家系CMT的遗传学特点。方法：应用STR结合多重PCR法对2例CMT患儿及该家系内15名表型正常的成员进行PMP22基因重复突变的分析。同时选择20名健康人做为对照。结果：在2名CMT患儿及5名家系内表型正常的成员中发现了PMP22基因重复突变,其中5例突变在STR位点D17S921,2例突变在STR位点D17S4A,而家系内其余10名成员及20名健康人未发现突变。结论：该CMT家系的致病基因为17p11.2-p12区域内包含PMP22基因的重复突变,其亚型为CMT1A。     

13例早发型腓骨肌萎缩症的基因分型研究

目的 探讨早发型腓骨肌萎缩症（CMT）的临床特征及遗传变异分析。方法 以临床诊断为早发型CMT的患儿为研究对象，收集相关临床资料，进行肌电图及CMT相关基因检测并分析。结果 早发型CMT病例共13例，男9例（69%），女4例（31%），平均就诊年龄4.0±2.1岁，其中12例（92%）患儿起病年龄 < 2岁。9例（69%）诊断为CMT1型（其中Dejerine-Sottas综合征6人），1例（8%）为中间型，3例（23%）为CMT2型。13例患儿的基因检测结果显示6例（46%）患儿存在外周髓鞘蛋白22（PMP22）基因重复突变、3例（23%）髓鞘蛋白零（MPZ）基因插入突变及点突变、3例（23%）线粒体融合蛋白2（MFN2）基因点突变、1例（8%）人轻肽神经丝蛋白（NEFL）基因点突变，其中11例（85%）为已知致病突变，2例（15%）为新变异。MPZ基因新变异c.394C > G（p.P132A）评级为"可能致病的"及MFN2基因新变异c.326A > G（p.K109R）评级为"致病的"。结论 早发型CMT以PMP22基因重复突变及MPZ基因突变为主，临床分型以CMT1型为主，其中Dejerine-Sottas综合征占有相当比例。     

腓骨肌萎缩症1型患儿肌电图和遗传学研究

目的：探讨腓骨肌萎缩症1型（CMT1）儿童的肌电图和遗传学特点。方法：对24例CMT1型患儿进行常规肌电图检测,同时联合应用PCR-双酶切分析检测17p11.2-12上的基因重复,对照组为10名健康儿童。结果：24例患儿运动或感觉神经传导速度存在不同程度的减慢或消失,且感觉神经病变重于运动神经,下肢受累程度重于上肢。所检24例患儿72块肌肉中,40块呈神经源性损害（56%）;患儿年龄越大,肌肉受累程度越严重。24例患儿中,PCR-双酶切法在13例患儿中检测出1760 bp片段,占54%。正常对照组未检测到此片段。结论：CMT1患儿肌电图改变特征明显,以周围神经传导速度减慢为主,肌肉病变多呈神经源性损害。PCR-双酶切可作为一种简单有效的CMT1型基因诊断方法。     

Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia

SUMMARY: We report a 13-year-old male patient with Charcot-Marie-Tooth disease (CMT) type 2 who developed severe neuropathy because of vincristine (VCR) for his acute lymphoblastic leukemia. A clumsy gait, muscle weakness in his fingers, and inverted champagne bottlelike muscle in the lower limbs were noticed after remission induction treatment for acute lymphoblastic leukemia, which included VCR at a total dose of 8 mg/m. An electrophysiologic study showed an almost normal median motor nerve conduction velocity (approximately 50 m/s), markedly reduced M-wave amplitude and sensory disturbance. He was diagnosed as CMT type 2 based on his symptoms and electrophysiologic findings. His symptoms gradually worsened, and even after VCR was discontinued, he could not walk alone for 7 months. VCR has previously been considered to be relatively safe in CMT type 2, however, some patients with CMT type 2 might show severe neurologic toxicities, as seen in patients with CMT type 1.     

男性幼儿双下肢无力1周伴眼睑下垂3d北大核心CSCD

患儿1岁7个月,以双下肢无力、眼睑下垂起病,呈进行性加重并出现呼吸不规则。神经系统体格检查:嗜睡状,双眼睑下垂,双上肢肌力4级,双下肢肌力3级,腱反射消失。实验室检查提示脑脊液蛋白细胞分离,H反射消失,血清抗GD1b抗体IgG阳性。最终该患儿诊断为吉兰-巴雷综合征(Guillain-Barrésyndrome,GBS)、Miller-Fisher综合征与Bickerstaff脑干脑炎重叠综合征,治疗上予免疫球蛋白、血浆置换、呼吸支持等治疗后患儿恢复出院。儿童GBS、Miller-Fisher综合征与Bickerstaff脑干脑炎重叠综合征可同时出现周围神经及脑干损害,临床异质性强,其中抗GD1b抗体相关的GBS、Miller-Fisher综合征与Bickerstaff脑干脑炎重叠综合征有特殊临床表现及复杂神经电生理变化,诊断较困难。因此对有双下肢乏力、眼睑下垂患儿尽早完善神经传导速度检查,重点关注H反射。     

Duchenne�ͽ����Լ�Ӫ�������ٴ��ͻ������97������

??Objective??To analyze the clinical and gene mutation characteristics of Duchenne progressive muscular dystrophy ??DMD????summarize the gene mutation hotspots in 97 cases and to explore the correlation between clinical manifestations and genotype. Methods??Totally 97 patients with DMD diagnosed by genetic examination from January 2014 to 2018 were collected and analyzed. The clinical manifestations??serum analyses and gene mutation results were analyzed. Results??The main clinical manifestations of 97 patients??96 boys?? were feeding difficulties?? increased muscle enzyme and limb weakness. Creatine kinase??CK???? lactate dehydrogenase??LDH?? and aspartate aminotransferase??AST?? muscle enzymes were significantly increased. By combining deep-sequencing technologies??the large deletions of DMD gene mutation was in 62 cases??63.92%????there were 11 cases??11.34%?? of large duplication mutation??and 24 cases??24.74%?? of point mutation. All of the mutations could occur in any position in the DMD gene??but there were two hot spots??45 cases were located in the central region gene exon 45??55??72.58% ????12 cases of deletion mutation were located in 5’exon end exon 2??19 area??19.35%??. Conclusion??The main clinical manifestations of the DMD children are feeding difficulty??increased muscle enzyme and limb weakness. The patients with significantly increased muscle enzyme should receive a timely defection of DMD gene.     

IGHMBP2变异致脊髓性肌萎缩伴呼吸窘迫1型1例并文献复习

脊髓性肌萎缩伴呼吸窘迫1型（SMARDI）临床多累及神经系统、呼吸系统、骨骼和自主神经系统,常在生后3月龄内发病,以远端肢体进行性肌无力和早期出现膈肌麻痹导致的呼吸衰竭为主要特征,较早出现踝关节、手/足指（趾）关节挛缩,易合并自主神经受累。文章总结IGHMBP2变异致SMARD1患儿的临床表现以及基因变异特点并文献复习,提示最常见的临床表现是膈肌麻痹导致的呼吸衰竭,远端肢体进行性肌无力、肌萎缩、关节畸形和自主神经受累症状。血清肌酸激酶水平正常或轻中度升高,胸部X线可见特征性膈肌膨出,肌电图和肌肉病理显示神经源性损害。已报道的IGHMBP2致病性变异以微小变异为主,最常见的变异类型是错义变异和无义变异。发现IGHMBP2致病性变异有助于临床明确诊断及产前诊断。     

Spinal muscular atrophy: some easy clues to diagnosis

Seven cases of benign form of spinal muscular atrophy were studied to evaluate the importance of detecting hand tremors, muscle fasciculation, evertion of foot and ECG tremors to distinguish these cases from muscular dystrophy. Taken in combination, diagnosis of all the seven cases was possible without the need for application of more sophisticated and invasive investigations, e.g., EMG, nerve conduction study, CPK levels and muscle biopsy.     

婴儿型脊肌萎缩症的临床及电生理分析

目的 分析婴儿型脊肌萎缩症患儿的临床及电生理表现，探讨本病的电生理特点及早期诊断要点。方法回顾性分析25例婴儿型脊肌萎缩症临床资料，肌电电生理按常规方法进行，针极肌电图按汤氏正常计算，神经传导速度按本室正常计算。结果患儿大多在1岁内起病，四肢呈对称性、迟缓性瘫痪，下肢重于上肢，近端重于远端；血清CK、LDH正常。肌电图表现为3个肢体在肌肉安静时出现广泛的失神经电位，轻用力时出现长时限、高波幅的运动单位电位，大力募集时电位数减少；神经传导速度正常，肌肉复合动作电位降低；肌肉活检为典型的神经源性肌萎缩。结论本病确诊应依据临床特点、肌电电生理、肌肉活检的改变。     

Novel mutations in SH3TC2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C

Charcot‐Marie‐Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. We describe the case of a 10‐year‐old Japanese girl diagnosed with CMT4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. On electrophysiological studies, motor nerve conduction velocity ranged from 22.3 m/s in the tibial nerve to 48.2 m/s in the median nerve. Sensory nerve conduction velocity ranged from 30.3 m/s in the sural nerve to 52.8 m/s in the median nerve. Sequence analysis of candidate genes identified two novel heterozygous mutations, c.229C>T and c.2775G>A, in SH3TC2. The patient was diagnosed as having CMT4C with novel mutations, making this the first documented Japanese pediatric case.