以先兆型偏头痛为主要临床表现的CADASIL(附1例报告)

目的 分析1例以先兆型偏头痛为主要临床表现的伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autonomic dominant arteriopathy with subcortical infarcts and leucoencephalopathy,CADASIL),探讨该病早期的临床特点.方法 对1例临床表现为先兆型偏头痛患者,进行临床、影像学分析、Notch3基因外显子测序.结果 该患主要表现为有家族史的先兆型偏头痛,头颅MRI见T2加权像和FLAIR像特征性颞极白质异常高信号,与放射冠、半卵圆中心区腔隙性脑梗死灶并存,Notch3基因外显子测序提示杂合突变c.353C→G(p.Ser118Cys).结论 重视先兆型偏头痛患者的头颅MRI表现,颞极异常信号提示CADASIL可能,进一步行Notch3基因外显子测序可提高CADASIL确诊率.     

伴脑出血的CADASIL(附1例报道)

目的报道1例以脑出血引发的癫痫为主要临床表现的伴皮质下梗死和白质脑病的长染色显性遗传性脑动脉病(Cerebral autonomic dominant arteriopathy with subcortical infarcts and leucoencephalopa-thy,CADASIL),探讨其可能的发病机制。方法对1例CADASIL患者进行临床表现、影像学及皮肤活检等方面检查。结果患者临床表现为癫痫、偏头痛、记忆力下降及情感障碍,MRI平扫见皮质下多发腔隙性脑梗死及脑白质病变,MRI梯度回波序列见多发微出血灶及右颞顶交界处大出血灶,皮肤活检电镜下见血管内皮下黑色嗜锇样颗粒沉积。结论对于表现为脑出血的患者,也应考虑CADASIL。     

以椎-基底动脉系统短暂性脑缺血发作为主要临床表现的CADASIL家族

目的 报道一个以椎-基底动脉系统短暂性脑缺血发作为主要临床表现的常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(CADASIL)家族，探讨其临床、影像学以及基因和病理特点。方法 先证者为中年女性，出现反复发作的头晕和智能减退。对其进行l临床、电生理、影像学分析和腓肠神经病理检查，并调查其家族中其他成员的发病情况。家族中连续3代有7例发病，两性均累及，发病年龄在40～50岁之间，均反复出现头晕、卒中和痴呆，症状呈阶梯性加重。结果 MR1检查显示基底节、丘脑、脑桥、胼胝体及脑室旁白质出现多发腔隙性低密度灶，白质疏松，累及双侧颞极。腓肠神经活检发现小动脉壁平滑肌细胞变性，其表面出现大量的颗粒样嗜锇性物质沉积。Notch3基因检查显示R607C突变。结论 CADASIL可以主要表现为椎一基底动脉系统的缺血性卒中和痴呆，其病理改变主要累及小动脉壁平滑肌细胞。含有小动脉的腓肠神经超微病理检查可能更有利于此病的诊断。基因检查可以进一步证实该病的诊断和筛查其他家族成员。     

CADASIL的临床、影像学特征及其诊断策略(附2例报道)

目的 探讨常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病(CADASIL)的临床表现及影像学特征和确诊的要素。方法 系统回顾分析经皮肤及肌肉活检或基因检测确诊的2例CADASIL的临床及影像学资料。结果 例1临床表现为进行性记忆障碍,例2临床表现为脑缺血性卒中样发作,2例均无通常的脑血管疾病的危险因素,脑MRI T₂W及FLAIR序列均显示两侧脑室周围及深部脑白质、外囊及前颞区对称性分布的高信号,例1皮肤活检发现在血管壁平滑肌细胞基膜层有嗜锇颗粒(GOM)沉积; 例2基因检测显示Notch3基因外显因子4,c.544C>T位点突变。结论 如若患者具有进行性认知损害、反复缺血性脑卒中样发作等临床表现,且无通常的脑血管病的危险因素,磁共振检查显示两侧脑白质对称性异常信号时,应考虑CADASIL的可能,此时进行皮肤或肌肉活检及/或基因检测有助确诊。     

以肢体无力为主要临床表现的胸腹主动脉夹层动脉瘤1例报道

本院最近治疗了1例以肢体无力为主要临床表现的胸腹主动脉夹层动脉瘤1例，现报道如下。     

大脑胶质瘤病（附1例报道）

大脑胶质瘤病是一种罕见的中枢神经系统原发性肿瘤。由于临床表现多种多样 ,神经影像学亦缺乏特征性表现 ,故诊断较为困难。我们报告 1例并结合文献讨论大脑胶质瘤病的诊断与治疗。1　病　例患者 ,女 ,15岁。突发呕吐、失语、呼之不应半天 ,急送当地医院行头颅ＣＴ、考虑为“蛛网膜下腔出血”经脱水、止血、抗炎治疗半月后无好转 ,转入我院。入院时 ,神志清楚 ,两侧外展受限 ,双眼向左侧水平眼震 ,两侧视孔头水肿 ,右侧上下肢肌力Ⅳ级 ,深反射亢进。头颅ＭＲＩ显示左侧额、颞、枕叶、脑岛、海马、丘脑、呈大片长Ｔ1、长Ｔ2 信号 ,左侧脑室受…     

以海绵窦综合征为首发症状的恶性淋巴瘤临床研究（附1例报道）

目的:探讨表现为海绵窦综合征的恶性淋巴瘤的临床特点。方法:回顾性分析我科收治的1例表现为痛性眼肌麻痹、额部痛觉减退和视乳头水肿的非霍奇金淋巴瘤患者,并复习了既往报道的19例类似病例。结果:其中大部分患者为非霍奇金淋巴瘤,临床表现缺乏特异性,头颅核磁共振检查可以较早发现病灶,肿块或淋巴结的活检或穿刺是诊断的重要组织学依据。结论:恶性淋巴瘤是海绵窦综合征的一个重要鉴别诊断。     

CADASIL的临床影像和病理学特征分析(附1例报告及文献复习)

目的分析CADASIL的临床、影像和病理学特征,提高对CADASIL的认识。方法诊治1例CADASIL患者,详细追问病史,常规检查常见脑血管病危险因素,调查其家系,阅读头部MRI和CT片,进行肌肉、皮肤小动脉活检,结合文献对其临床、影像和病理学进行讨论。结果患者血糖、血压、血脂在正常范围,中年起病,表现为反复缺血性卒中发作;其家系缺血性脑卒中发病呈常染色体显性遗传;头部MRI可发现胼胝体、外囊区长T1和长T2信号,无论头部MRI还是CT均显示额顶叶相对对称的白质病变;电镜检查发现外周血管GOM阳性。结论有阳性家族史、无常见脑血管病危险因素并且发病年龄相对较早的缺血性脑血管病患者应考虑到CADASIL可能,其头部MRI或CT所显示的胼胝体和/或外囊和/或颞极及额顶叶白质对称出现的病变支持该病可能,通过外周血管活检,GOM阳性则可确诊。     

延髓肿瘤的外科临床表现（附68例临床报告）

目的：分析68例不同性质延髓肿瘤临床表现,有助于早期诊断,早期治疗。万法：全面分析68例延髓肿瘤临床症状与体征、神经放射学特征,评估术前呼吸循环功能,并结合术中所见和术后病理诊断,对不同性质肿瘤进行对比研究。结果：延髓肿瘤以后组预神经功能受累最为多见。良性肿瘤生长较缓慢,常见肿瘤巨大而临床症状轻微,很少发生明显呼吸循环功能改变。出血性肿瘤如海绵状血管瘤常突然发病,症状突然加重,表现出呼吸、循环改变,恶性度高的胶质瘤,病情进展迅速,临床症状较重。结论：延髓肿瘤早期症状元明显特异性,如果出现后组颅神经功能障碍及长束征或特发呼吸功能障碍者,宜进一步行MRI检查以明确诊断。     

伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的临床和影像学特征分析

目的 报道1例影像学上表现为双侧小脑和胼胝体膝部梗死的伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(Cerebral autonomic dominant arteriopathy with subcortical infarcts and leucoencephalopathy CADASIL),探讨CADASIL的临床及影像学表现。方法 对1例疑诊为CADASIL的78岁女性患者进行临床表现、影像学检查及实验室检查,神经心理测评的收集,取得患者知情同意后对其进行NOTCH3基因检测和皮肤活检,并对家系成员进行验证分析。结果 患者首发症状为记忆力减退,起病年龄较大,伴有情感淡漠、步态不稳、小便功能障碍,无偏头痛,头颅磁共振见广泛的脑白质脱髓鞘,丘脑、胼胝体膝部、双侧基底节、双侧小脑半球多发陈旧性腔隙性脑梗死,NOTCH3基因检测发现11号外显子存在c.1630C>T错义突变,即p.R544C。结论 本例CADASIL患者的起病年龄75岁,首发症状为记忆力减退,腔隙性脑梗死不仅累及丘脑、基底节,同样也可以累及小脑。胼胝体全层梗死为CADASIL的特征性影像表现之一。     

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

This study was performed on a family of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) subjects. Neuropathological alterations of small arteries consisting in thickening, reduplication and fragmentation of the internal elastic lamella, and granular periodic acid-Schiff-positive material deposited in the arterial media were demonstrated in 1 autopsy case by histochemistry and electron microscopy. This material reacted with a monoclonal antibody anti-elastin (aE), as demonstrated by immunohistochemistry and immunoelectron microscopy. Significant increases of aE-immunoreactivity and elastin mRNA expression were found in cultured skin fibroblasts from 5 family members genetically affected by CADASIL, but not genetically and clinically healthy members. These results suggest that alterations of the elastic apparatus are associated with CADASIL genotype and related to the clinical expression of the disease.     

伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(附1例报道)

目的　探讨伴有皮层下梗死和白质脑病 (Cerebralautonomicdominantarteriopathywithsubcorti calinfarctsandleukoencephalopathy ,CADASIL)的常染色体显性遣传性脑动脉病的临床特点和诊断方法。 方法　对 1例CADASIL患者的临床表现、影像学 (MRI、CT)特点及皮肤活检等方面进行了探讨。结果　患者临床表现为反复发作的缺血性脑卒中、记忆力减退、假性球麻痹、MRI、CT见皮质下梗死和白质脑病的改变 ,皮肤活检显示小动脉含糖原颗粒 ,管腔狭窄 ,血管内皮下黑色嗜锇颗粒。结论　通过本病的临床特点、影像学和皮肤活检 ,可在生前进行诊断。     

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a case report with review of literature

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited arterial disease, commonly overlooked or misdiagnosed. We report a case of CADASIL in a 51 years old woman who presented with progressive subcortical dementia, recurrent ischemic events and seizures in the absence of known vascular risk factors of five years' duration. Her mother had a history of similar illness. Magnetic resonance imaging (MRI) of brain revealed subcortical and deep white matter hyperintense lesions within the cerebral white matter on T2-weighted images. DNA mutation of Notch 3 gene confirmed the diagnosis of CADASIL.     

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Greek family

Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset inherited disease, characterised by recurrent strokes, migraine and cognitive impairment. We present the first Greek family with CADASIL, caused by the R153C mutation at exon 4 of the Notch3 gene. A member of this family carrying this mutation was also found to be heterozygotic for the MTHFR mutation, factor V Leiden mutation and had low serum levels of antithrombin III, thus resulting in the appearance of recurrent strokes and thrombotic episodes since his early adulthood. The co-existence of these thrombophilic disorders with CADASIL in a single person poses serious therapeutic dilemmas, as the administration of anticoagulant agents may correlate with increased risk of potentially fatal intracerebral haemorrhage.     

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a recently described genetic disease characterized by recurrent subcortical infarcts and dementia. Based on linkage analysis its gene has been assigned to chromosome 19p13. We report an Australian kindred with typical clinical features of CADASIL, the diagnosis being supported by linkage analysis. No expansion was detected on repeat expansion detection (RED) testing.     

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): A patient from Sri Lanka

We report the first patient from Sri Lanka (the third patient from the Indian subcontinent) with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The patient experienced a young onset familial stroke with an 856T>G missense mutation in exon 5 of the NOTCH3 gene resulting in a C260G mutation in the sixth epidermal growth factor-like repeat. We believe this is the first reported Sri Lankan patient. CADASIL is probably underdiagnosed in the region.     

5个CADASIL家族的核磁共振改变特点

目的　分析来自5个CADASIL家族中8名患者的核磁共振(MRI)表现,总结病变不同时期的MRI变化规律及其诊断价值。方法　研究对象为经过超微病理和Notch3基因检查确诊的5个CADASIL家族中的8个患者,均在成年早期发病,主要表现为反复发作的缺血性卒中和进行性痴呆。对先证者1及其母亲、先证者2及其哥哥、姐姐,先证者3、4和5 ,总计8名患者进行了头部MRI检查,其中4名进行了MRI血管成像检查。结果　8名患者的头部MRI均显示多发腔隙性脑梗死,病灶主要分布在基底节、丘脑和脑室旁白质,6例患者出现了外囊梗死,4例出现了胼胝体梗死,3例出现了脑桥梗死。所有8例患者均存在双侧大脑半球多灶性或弥漫性白质疏松,1例患者MRI确诊1年后随访显示多灶性白质病变进展为弥漫性损害,5例患者出现了双侧颞极等T1 长T2 信号。4例患者的头部MRI血管成像检查未见异常。结论　基底节、丘脑和脑室旁白质是CADASIL腔隙性脑梗死的好发部位,外囊和胼胝体梗死以及双侧颞极长T2 信号对本病具有较高的诊断价值。脑干受累可以出现在病程早期,而白质病灶分布形式的变化可以反映病情的进展。