CADASIL脑弥散张量成像特点及与临床的关系

目的 分析常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)患者的弥散张量成像特点及与临床的关系.方法 患者和同龄健康志愿者各14例,进行头颅MRI常规扫描和弥散张量成像扫描,测量两组受试者各脑叶、内囊后肢、外囊以及胼胝体的部分各向异性(fractional anisotropy,FA)值及总和,比较两组问FA值的差异.对患者的认知功能和卒中后神经功能状态分别进行MMSE和NIHSS评分.校正年龄影响,分析患者各个脑白质区域FA值及总和与MMSE分值、NIHSS评分的相关关系.结果 患者组各脑区的FA值均显著低于对照组.FA值总和、右额叶、右颞叶、左顶叶、左枕叶、双侧内囊后肢以及外囊白质的FA值和MMSE分值存在相关性(P＜0.05).FA值总和及各脑区FA值与NIHSS评分无相关性.结论 CADASIL患者不同脑白质区域的FA值显著下降,部分区域的白质损害与患者的认知功能减退有关.     

Combined therapy of telbivudine and pegylated interferon α-2a induced sensory neuropathy:2 case reports

Objective To report the clinical and pathological features of the sensory neuropathy caused by a combined therapy of telbivudine and pegylated interferon α-2a in 2 patients with hepatitis B virus infection Methods Two male patients aged 48(case 1)and 20(case 2),who suffered from hepatitis B virus infection.were given telbivudine and pegylated interferon α-2a.After 4 months treatment,both patients developed numbness and pain in the lower limbs.The physical examination showed decreased pain sensation in distal extremities.Hypahidrosis appeared in distal extremities.The nails were pale changed in fingers and toes in cage 1.Case 2 presented mild weakness in the proximal muscle of lower limbs and the tendon reflex was decreased in both lower limbs.His 8erunl creatine kinase level was mild elevated.The electromyography examination and sural nerve biopsies were performed on both patients.Results Electromyography examination showed significant decrease of amplitude of sensory nerve action potentials and mild decrease of sensory nerve conduction velocities in both patients.The amplitude of motor nerve action potentials was also decreased in case 2.Light microscope examination revealed middle reduction of myelinated fibers,wallerian degeneration of myelinated fibers and small clusbers of regenerated fibers in sural nerve.Electro microscopy examination revealed the loss of unmyehnated nerve fibers.After the combined therapy was stopped and vitamin B,CoQ10 and L-camitine were administered,the patients recovered gradually.Conclusions Combined therapy of telbivudine and pegylated interferon α-2a may cause sensory neuropathy with electrophsiological and pathological abnormalities of axonal lesions.The sensory neuropathy induced by the combined therapy may be reversible.     

Notch3基因突变导致动脉平滑肌细胞蛋白表达减少

目的 报道Notch3基因突变后微小动脉血管平滑肌细胞相关蛋白的表达特点.方法 6个CADASIL家系先证者的诊断均经过血管超微病理检查和Notch3基因检查加以证实.对6例先证者的腓肠神经标本进行免疫病理检查,第一抗体为抗α-平滑肌肌动蛋白、肌球蛋白重链、结蛋白和波形蛋白.结果 直径≥100 μm的微小动脉平滑肌细胞出现α-平滑肌肌动蛋白、肌球蛋白重链和结蛋白不同程度减少,而波形蛋白表达增强.直径<100 μm的微小动脉平滑肌细胞出现肌球蛋白重链和结蛋白减少,α-平滑肌肌动蛋白减少不明显,波形蛋白表达增强.结论 不同Notch3基因突变均可以导致不同直径的微小动脉平滑肌细胞处于合成状态,其中大直径的微小动脉改变更明显.     

骨骼肌钠通道α1亚基基因R1129Q新突变导致正常钾和低钾性周期性瘫痪一家系

目的 报道1个骨骼肌钠通道α1亚基(SCN4A)基因新突变导致的正常钾和低钾性周期性瘫痪家系的临床和病理改变特点.方法 本家系为常染色体显性遗传,共有9例患者,男性4例,女性5例,发病年龄7～25岁.5例患者为正常钾性周期性瘫痪,其中4例伴随肌强直症状;3例患者为低钾性周期性瘫痪;1例发作时血钾浓度不详.对先证者进行左肱二头肌活体组织检查.先证者和7例家系患者、3名无症状家系成员以及50名健康人行SCN4A基因测序.结果 先证者的肌纤维出现轻度肥大和萎缩,伴随核内移和肌纤维内空泡,部分肌纤维内氧化酶分布异常.所有患者均存在SCN4A基因的R1129Q突变,3名无症状家系成员以及50名健康对照无此突变.结论 SCN4A基因R1129Q新突变在同一家系内可以导致低血钾性和正常血钾性周期性瘫痪共存.     

骨骼肌钠通道α1亚基基因R1129Q新突变导致正常钾和低钾性周期性瘫痪一家系

目的 报道1个骨骼肌钠通道α1亚基(SCN4A)基因新突变导致的正常钾和低钾性周期性瘫痪家系的临床和病理改变特点.方法 本家系为常染色体显性遗传,共有9例患者,男性4例,女性5例,发病年龄7～25岁.5例患者为正常钾性周期性瘫痪,其中4例伴随肌强直症状;3例患者为低钾性周期性瘫痪;1例发作时血钾浓度不详.对先证者进行左肱二头肌活体组织检查.先证者和7例家系患者、3名无症状家系成员以及50名健康人行SCN4A基因测序.结果 先证者的肌纤维出现轻度肥大和萎缩,伴随核内移和肌纤维内空泡,部分肌纤维内氧化酶分布异常.所有患者均存在SCN4A基因的R1129Q突变,3名无症状家系成员以及50名健康对照无此突变.结论 SCN4A基因R1129Q新突变在同一家系内可以导致低血钾性和正常血钾性周期性瘫痪共存.     

Combined therapy of telbivudine and pegylated interferon α-2a induced sensory neuropathy:2 case reports

Objective To report the clinical and pathological features of the sensory neuropathy caused by a combined therapy of telbivudine and pegylated interferon α-2a in 2 patients with hepatitis B virus infection Methods Two male patients aged 48(case 1)and 20(case 2),who suffered from hepatitis B virus infection.were given telbivudine and pegylated interferon α-2a.After 4 months treatment,both patients developed numbness and pain in the lower limbs.The physical examination showed decreased pain sensation in distal extremities.Hypahidrosis appeared in distal extremities.The nails were pale changed in fingers and toes in cage 1.Case 2 presented mild weakness in the proximal muscle of lower limbs and the tendon reflex was decreased in both lower limbs.His 8erunl creatine kinase level was mild elevated.The electromyography examination and sural nerve biopsies were performed on both patients.Results Electromyography examination showed significant decrease of amplitude of sensory nerve action potentials and mild decrease of sensory nerve conduction velocities in both patients.The amplitude of motor nerve action potentials was also decreased in case 2.Light microscope examination revealed middle reduction of myelinated fibers,wallerian degeneration of myelinated fibers and small clusbers of regenerated fibers in sural nerve.Electro microscopy examination revealed the loss of unmyehnated nerve fibers.After the combined therapy was stopped and vitamin B,CoQ10 and L-camitine were administered,the patients recovered gradually.Conclusions Combined therapy of telbivudine and pegylated interferon α-2a may cause sensory neuropathy with electrophsiological and pathological abnormalities of axonal lesions.The sensory neuropathy induced by the combined therapy may be reversible.     

糖原累积病Ⅳ型的临床和病理特点

目的 报道1例22岁男性糖原累积病Ⅳ型(Anderson disease)患者临床及病理特点.方法 对该患者行详细的病史询问和体格检查、心脏和腹部超声检查、头颅影像学、肌电图以及肌肉病理检查.结果患者儿童期发病,主要表现为四肢近端肌肉运动不耐受和疲劳感,偶有心悸;腹部超声示肝硬化、门脉高压和巨脾,超声心动图示心肌肥大、二尖瓣和三尖瓣轻度关闭不全;四肢骨骼肌肌电图示肌源性损害.头颅影像正常.肌肉病理HE染色示肌纤维内大量嗜碱性物质沉积,沉积物糖原染色(PAS)染色呈强阳性,淀粉酶处理后部分阳性物质被消化.电镜下嗜碱性沉积物为分支状细丝样结构以及无定型的颗粒样物质.结论 此例为国内首次报告的糖原累积病Ⅳ型,属于分支酶缺陷病,受累组织和器官以骨骼肌、肝脏、脾脏和心肌为主.     

核黄素反应性脂质沉积性肌病伴感觉共济失调性神经病3例报告

目的研究核黄素反应性脂质沉积性肌病伴感觉共济失调性神经病的临床、电生理、病理和基因改变特点。方法 3例男性患者来自2个家系,其中2例为兄弟,发病年龄41～43岁,主要症状是四肢肌无力,伴随双足麻木和行走不稳。查体发现四肢近端肌力下降、末梢性感觉丧失和Romberg征阳性。3例患者的血尿代谢筛查均提示存在血多种脂酰肉碱水平升高和尿戊二酸水平增高。3例患者均进行了神经电生理、肌肉活检以及电子转移黄素蛋白脱氢酶(ETFDH)基因检查,2例进行腓肠神经活检。结果 3例患者的肌电图分别出现肌源性损害、可疑神经源性损害和无异常。3例患者的四肢感觉神经传导速度显著减慢或不能引出,运动神经传导速度仅在1例出现轻度减慢。3例患者的骨骼肌均可见肌纤维内脂肪滴显著增多,2例有个别破碎红纤维,2例出现小角状肌纤维。2例患者的腓肠神经均可见有髓神经纤维中-重度减少,伴随有髓神经纤维轴索变性和再生。3例患者均携带ETFDH基因的复合杂合突变,其中2兄弟为c.65A>G和c.242T>C,另1例为c.770A>G和c.1450 T>C。结论 ETFDH基因突变导致的核黄素反应性脂质沉积性肌病可以伴随感觉共济失调性神经病。     

轻型巨轴索神经病一例

巨轴索神经病(giant axonal neuropathy,GAN)是一种累及周围神经和中枢神经系统的遗传性中间丝蛋白病,该病于1972年首次报道.目前已明确其致病基因为gigaxonin[1].     

Combined therapy of telbivudine and pegylated interferon α-2a induced sensory neuropathy:2 case reports

Objective To report the clinical and pathological features of the sensory neuropathy caused by a combined therapy of telbivudine and pegylated interferon α-2a in 2 patients with hepatitis B virus infection Methods Two male patients aged 48(case 1)and 20(case 2),who suffered from hepatitis B virus infection.were given telbivudine and pegylated interferon α-2a.After 4 months treatment,both patients developed numbness and pain in the lower limbs.The physical examination showed decreased pain sensation in distal extremities.Hypahidrosis appeared in distal extremities.The nails were pale changed in fingers and toes in cage 1.Case 2 presented mild weakness in the proximal muscle of lower limbs and the tendon reflex was decreased in both lower limbs.His 8erunl creatine kinase level was mild elevated.The electromyography examination and sural nerve biopsies were performed on both patients.Results Electromyography examination showed significant decrease of amplitude of sensory nerve action potentials and mild decrease of sensory nerve conduction velocities in both patients.The amplitude of motor nerve action potentials was also decreased in case 2.Light microscope examination revealed middle reduction of myelinated fibers,wallerian degeneration of myelinated fibers and small clusbers of regenerated fibers in sural nerve.Electro microscopy examination revealed the loss of unmyehnated nerve fibers.After the combined therapy was stopped and vitamin B,CoQ10 and L-camitine were administered,the patients recovered gradually.Conclusions Combined therapy of telbivudine and pegylated interferon α-2a may cause sensory neuropathy with electrophsiological and pathological abnormalities of axonal lesions.The sensory neuropathy induced by the combined therapy may be reversible.