成人线状硬皮病伴眼睑下垂1例并文献复习

目的探讨线状硬皮病的临床特点、诊断及治疗。方法总结2020年10月20日就诊于山东大学第二医院的1例线状硬皮病患者的临床资料和诊治过程, 同时系统性回顾国内外文献所发表的硬皮病的病例报告或病例系列研究, 分析其性别、年龄、发病时间、临床表现、治疗及预后等情况。结果本例患者为24岁女性, 有头皮斑痕样脱发和同侧面部凹陷病史10余年, 因"2年前出现右侧眼睑无力、下垂, 加重1个月"就诊, 接受糖皮质激素治疗, 效果欠佳。分析文献报道的全部15例患者, 发病年龄中位数为22岁, 男女比例为9∶6, 表现为线状硬皮病伴有同侧眼睑下垂、同侧面部萎缩和颅内脱髓鞘病灶者4例, 线状硬皮病合并同侧面部萎缩及颅脑脱髓鞘病灶者3例, 线状硬皮病合并大脑半球萎缩2例, 线状硬皮病合并同侧面部萎缩3例, 线状硬皮病合并同侧面肌痉挛者1例, 线状硬皮病合并胸腹部硬化性斑2例, 线状硬皮病并癫痫发作并脑白质脱髓鞘病灶者2例。治疗方面, 单纯应用激素治疗者有6例, 单纯应用甲氨蝶呤者2例, 激素合并甲氨蝶呤治疗者1例, 应用氢化可的松乳膏外用2例, 行骨重建手术3例, 长波紫外线光疗治疗1例, 应用维生素治疗1例...     

戊二酸尿症Ⅰ型患者的临床、影像与病理特点

目的探讨戊二酸尿症Ⅰ型患者的临床表现、影像学与病理特点。方法回顾分析作者医院1例经脑活检及尿气相色谱-质谱联用方法确诊的戊二酸尿症Ⅰ型患者的临床与病理学资料,结合国内文献报道的7例戊二酸尿症Ⅰ型患者的临床与影像学资料,总结其临床表现、影像与病理改变特点。结果8例患者均经尿气相色谱-质谱联用方法确诊,于出生后1~8个月发病,主要表现为智力发育减退和运动障碍;影像学显示双侧白质和基底节区病变为主;其中1例患者行脑活检检查显示,病变白质出现明显的海绵状变性,未见脱髓鞘改变。结论戊二酸尿症Ⅰ型患者主要临床表现为智力发育减退和运动障碍;影像学显示主要为基底节区、中央区白质受累,外侧裂、池明显扩大;脑病理检查表现为海绵状变性。     

戊二酸尿症I型患者的临床、影像与病理特点

目的 探讨戊二酸尿症Ⅰ型患者的临床表现、影像学与病理特点.方法 回顾分析作者医院1例经脑活检及尿气相色谱-质谱联用方法确诊的戊二酸尿症Ⅰ型患者的临床与病理学资料,结合国内文献报道的7例戊二酸尿症Ⅰ型患者的临床与影像学资料,总结其临床表现、影像与病理改变特点.结果 8例患者均经尿气相色谱-质谱联用方法确诊,于出生后1～8个月发病,主要表现为智力发育减退和运动障碍;影像学显示双侧白质和基底节区病变为主;其中1例患者行脑活检检查显示,病变白质出现明显的海绵状变性,未见脱髓鞘改变.结论 戊二酸尿症Ⅰ型患者主要临床表现为智力发育减退和运动障碍;影像学显示主要为基底节区、中央区白质受累,外侧裂、池明显扩大;脑病理检查表现为海绵状变性.     

抗磷脂综合征7例患者临床、影像及病理特点分析

目的探讨抗磷脂综合征(antiphospholipid syndrome,APS)的临床表现、生化检查、神经影像和皮肤病理特点。方法回顾性分析7例诊断为APS患者的临床资料、神经影像和皮肤病理资料。结果慢性起病3例,临床表现为反复头痛、记忆力下降为主;神经影像学检查结果示病灶分布于大脑皮质下白质及侧脑室旁白质,呈脑梗死或脱髓鞘改变,颅内中等血管狭窄、小血管闭塞或继发扩张;皮肤活检病理检查:光镜示真皮内小血管周围少量淋巴细胞浸润,电镜示上皮组织下小血管管壁增厚、管腔狭窄或闭塞。结论 APS以反复头痛或脑梗死为主要临床表现,影像学以多灶性、不对称性、脑白质缺血或脱髓鞘信号改变为特点,皮肤病理检查以小血管狭窄或闭塞为特点。熟悉APS的临床、影像学与病理学特点有利于对其做出早期诊断。     

鼻咽癌合并颅内神经损害诊治分析

目的探讨鼻咽癌合并颅内神经损害患者的发病原因。方法对40例鼻咽癌合并颅内神经损害患者的临床资料进行回顾性分析。结果40例鼻咽癌合并颅内神经损害患者中有28例被诊为神经系统疾病,而且此类患者CT平扫不易发现早期病变。结论重视鼻咽部和颅底的影像学检查,可以降低鼻咽癌合并颅内神经损害患者的误诊。     

鼻咽癌合并颅内神经损害误诊20例分析

目的 探讨鼻咽癌合并颅内神经损害患者的误诊原因.方法 对20例鼻咽癌合并颅内神经损害患者的临床资料进行回顾性分析.结果 20例鼻咽癌合并颅内神经损害患者中有14例被误诊为神经系统疾病,而且此类患者CT平扫不易发现早期病变.结论 重视鼻咽部和颅底的影像学检查,可以降低鼻咽癌合并颅内神经损害患者的误诊.     

急性播散性脑脊髓炎合并多发性神经病的临床研究

目的分析急性播散性脑脊髓炎合并多发性神经病的临床特点,以提高临床医生对本病的认识和诊疗水平。方法对2017-12—2019-04就诊于河南省人民医院的8例急性播散性脑脊髓炎合并多发性神经病患者的临床表现、影像学、神经电生理、脑脊液特点及全身免疫相关指标进行回顾性分析。结果本组8例患者为急性或亚急性起病,起病前多有前驱感染史。首先表现为中枢神经系统受累,其中7例影像学证实脑和(或)脊髓白质受累,1例脑电图证实中枢神经系统受损;迟缓性瘫痪、腱反射减弱或消失等周围神经受损的证据也随后出现,而后肌电图证实多发性神经根受损或神经源性损害。脑脊液检查细胞轻度升高或正常,蛋白升高或正常,只有1例见脑脊液细胞-蛋白分离。治疗上急性期激素冲击或免疫球蛋白治疗,症状和体征明显改善,缓解期辅以免疫抑制剂,随访无复发。结论中枢神经系统和周围神经系统同时或相继出现脱髓鞘性改变,可能是一种不同于单纯中枢神经系统脱髓鞘和周围神经系统脱髓鞘的新疾病体,也可能是一种新的叠加综合征。     

线粒体神经胃肠型脑肌病的临床和病理分析

目的 探讨线粒体神经胃肠型脑肌病(Mitochondrial Neurogastrointestinal Encephalopathy Disease,MNGIE)的临床和病理特点.方法 通过1例临床确诊为线粒体神经胃肠型脑肌病病例的临床表现、影像学检查及病理检查,系统回顾线粒体神经胃肠型脑肌病的发病机制、临床表现、病理特点.结果 该患有长期的腹痛、腹泻史,神经系统首发症状为听力障碍,此后出现头晕、走路不稳、记忆力逐渐下降.神经系统检查有眼外肌麻痹、听力障碍、周围神经损害.肌电图:广泛神经源性损害.头部MRI表现为广泛的白质脑病.肌肉活检为HE染色中出现嗜碱的肌纤维,在GT染色中为典型和不典型的RRF,在NADH染色和SDH染色中深染.结论 线粒体神经胃肠型脑肌病是一种特殊类型的线粒体肌病,具有上述临床及影像学特点,加上血及(或)脑脊液乳酸水平升高,肌肉活检示组织学线粒体肌病的表现.如果发现血清白细胞中胸苷磷酸化酶活性降低或基因检测发现胸苷磷酸化酶(thymidine phosphorylase,TYMP)基因位点突变更能进一步确诊.     

多神经病、眼肌麻痹、白质脑病与假性肠梗阻:POLIP综合征

进行性神经系疾病表现为慢性假性肠梗阻(Ch-ronic Intestinal Pseudo-obstruction,CIP)有或无多发性神经病已在一些家族中发现,作者由3个家族中发现5例,有CIP并有广泛的神经系统功能障碍与磁共振(MRI)可见大脑白质异常、临床、电生理、放射学与神经病理学所见;全部均有颅神经、内脏周围神经与视神经、中央白质广泛损害。应用了周围运动神经、视觉与脑干听诱发电位及肌电图进行了研究、胃肠道(GI)检查、脑MPI与病理学研究;5例腓肠神经活检,2例作了电镜检查,2例尸检进行了中枢神经系统(CNS)与周围神经系统(PNS)的系统研究,3例全部(GI)检查。     

原发性干燥综合征神经系统损害21例临床分析

21例原发性干燥综合征(PSS)患者,中老年女性占95%,有眼干、口干症状者16例,以神经系统症状首发14例。神经系统损害主要为脑损害15例,呈脑梗死型,以皮质下及脑室周围白质为主,脊髓损害5例,均合并脑梗死,以上胸段脊髓为主;周围神经损害5例;低钾性周期性瘫痪1例。神经系统损害症状可在眼干、口干症状前或后。对中老年女性出现不能用其他疾病解释的神经肌肉症状,应注意询问眼干、口干病史,进行相关的检查,以利早期诊断。     

Scleroderma "en coup de sabre": pathological evidence of intracerebral inflammation

Linear scleroderma "en coup de sabre" (LScs) is associated with neurological complications, the pathogenesis of which is uncertain. A 27 year old woman is reported on who developed epilepsy and focal neurological signs in association with LScs. Brain MRI demonstrated predominantly ipsilateral relapsing and remitting grey and white matter lesions. Analysis of CSF and pathology obtained at brain biopsy provides evidence of an inflammatory process which may be amenable to immunosuppressive treatment.     

Difficulties in differentiation of Parry–Romberg syndrome, unilateral facial sclerodermia, and Rasmussen syndrome

Introduction Parry–Romberg syndrome (progressive facial hemiatrophy) is a unilateral, slowly progressive atrophy affecting the skin, subcutaneous tissues, muscles, and bones. The relationship between Parry–Romberg syndrome and connective tissue disorders, especially scleroderma en coup de sabre, is still unclear. The neurological symptoms, including epilepsy, migraine, and brain lesion, on neuroimaging may be similar. Rasmussen encephalitis (RE) is connected with chronic inflammation and damage of one hemisphere. Clinically, it is manifested by epileptic partial seizures and unilateral neurological symptoms.Case Report The authors present the case of a 10-year-old girl with features suggestive of RE, with refractory partial motor dextrolateral seizures followed by development of hemiparesis and with progressive intellectual deterioration. At the age of 2 years, some changes on the left part of the face typical of Parry–Romberg syndrome or a linear form of scleroderma were noticed.Discussion The authors discussed the difficulties in differential diagnosis in that patient. The presented girl constitute the case from the borderline zone of the aforementioned disorders.     

Linear scleroderma "en coup de sabre" coexisting with plaque-morphea: neuroradiological manifestation and response to corticosteroids

A 24 year old woman in the 33rd week of pregnancy developed progressive neurological complications with right sided hemiparesis in association with the occurrence of linear scleroderma "en coup de sabre" (LSCS) and pre-existing plaque-morphea, already being treated by balneophototherapy. Further progression of neurological symptoms led to a caesarean section with the delivery of a healthy child. Brain magnetic resonance imaging (MRI) showed focal T2 signal increases in the left frontoparietal region directly adjacent to the area of LSCS. Cerebrospinal fluid analysis revealed oligoclonal bands, suggesting an intracerebral inflammatory process. Subsequent pulsed corticosteroid treatment led to a remission of neurological symptoms and to a marked resolution of the MRI lesions.     

Linear scleroderma associated with progressive brain atrophy

Linear scleroderma (LS) is characterized by scleroatrophic lesions affecting limbs and legs, unilaterally. Neurological involvement may be associated with ipsilateral facial and skull involvement in disorders referred to clinically as LS 'en coup de sabre', and Parry-Romberg syndrome.We report a child with LS presenting with a severe neurological disorder characterized by epilepsy, progressive mental deterioration and a rapid process of atrophy involving the ipsilateral cerebral hemisphere, but not associated with an overlying facial structure involvement. Functional brain studies showed a reduction in the diameter of the left internal carotid and of the left middle cerebral artery. Our observations suggest that neuroimaging studies should be considered in all patients with linear scleroderma, and such studies become necessary when neurological symptoms occur.     

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

Summary A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues revealed a partial defect of cytochrome-c-oxidase (complex IV of the respiratory chain). This mitochondrial multisystem disorder may represent a separate entity to be classified between the spectrum of myoencephalopathies and oculo-gastrointestinal muscular dystrophy.     

Depression in late life, cognitive decline and white matter pathology in two clinico-pathologically investigated cases

CASE REPORTS: We report two cases of late life depression who became progressively more resistant to treatment, developed cognitive impairment, and began to exhibit neurological abnormalities and evidence of vascular disease. A discussion of the clinical features of the cases is accompanied by reports of neuropathology and neuroimaging findings. Extensive white matter lesions were present on computed tomography in both patients, and basal ganglia infarcts were seen in one. Neuropathology revealed evidence of cerebral atrophy, demyelination and white matter lesions in addition to cerebrovascular and generalised vascular disease. Neither patient exhibited Alzheimer pathology outwith the norm for their age. We believe this to be the first report of neuropathological findings in depression with white matter changes. LITERATURE REVIEW: The pathological basis of white matter lesions and their relationship to depression, its age of onset and clinical features is addressed in relation to the cases described. Pathological investigation of white matter lesions has not previously been carried out in depression and hypotheses regarding their nature in this illness are based on extrapolation from research in a variety of other disorders. The association of depression with vascular risk factors is considered, as is the relationship between depression and cognitive deficits. There is a need for further investigation in this area.     

Magnetic resonance imaging abnormalities in cat-scratch disease encephalopathy.

A 23-year-old woman who presented with a branch retinal artery occlusion followed by encephalopathy showed, by brain magnetic resonance imaging, a nonenhancing lesion in the right parietal gray matter with normal diffusion-weighted imaging. Of 64 reported cases of cat-scratch encephalopathy with documented neuroimaging findings, only 12 (18.8%) have had abnormal imaging findings. The abnormalities have included cerebral white matter lesions, basal ganglia and thalamic lesions, and multifocal lesions in immunocompromised patients, but no gray matter lesions similar to those in this patient. The variety of neuroimaging findings supports multiple pathophysiologic mechanisms of central nervous system involvement in this disorder.     

"Tumor-mimicking" multiple sclerosis

The spectrum of clinical manifestations of multiple sclerosis (MS) may include rare cases where cerebral lesions simulate brain tumors or abscesses on neuroimaging. We report here on a 43-year-old woman with numerous ring-enhancing cystic lesions in the white matter of cerebral hemispheres, brainstem and cerebellum. The radiological picture was overwhelmingly in favor of a metastatic or infectious etiology, but brain biopsy showed subacute demyelination with central necrosis.