6例Melkersson-Rosenthal综合征的临床、病理及电生理特点

目的:分析梅-罗(Melkersson-Rosenthal)综合征(MRS)的临床、病理及电生理特点,以提高对本病的认识和诊断水平.方法:对6例MRS患者的临床表现、病理改变及神经电生理检查结果进行回顾性研究.结果:按MRS的诊断标准,6例中4例为完全型.全部患者均有唇、面部水肿;5例出现周围性面瘫;4例有皱襞舌表现....     

Melkersson-Rosenthal综合征的临床与病理学特征

目的研究Melkersson-Rosenthal综合征的临床及病理学特征。方法报告1例21岁男性Melkers-son-Rosenthal综合征患者的临床、实验室和病理学资料。结果本例患者具有反复交替性面瘫、下唇肿胀及先天皱襞舌,舌体病理活检显示淋巴水肿型炎症。结论对临床表现为复发性面瘫、唇面肿胀、皱襞舌的患者,要考虑Melkersson-Rosenthal综合征的诊断。     

梅-罗综合征研究新进展

梅一罗综合征（Melkersson—Rosenthal syndrome，MRS），国内也称“肉芽肿性唇炎综合征”，又称复发性唇面面瘫综合征，或巨唇-面瘫-皱襞舌综合征，是一种少见的非干酪性肉芽肿性疾病，临床以复发性唇面肿胀、间歇性面瘫、沟纹舌为主要表现，并被认识到肉芽肿性唇炎与MRS有关，目前已有多项研究证实了这种相关性，肉芽肿性唇炎被认为是MRS的单症状型。     

Melkersson Rosenthal综合征1例

Melkersson Rosenthal综合征（MRS）即唇舌水肿面瘫综合征，系以周围性面瘫、反复颜面水肿、皱襞（裂纹）舌为特征的综合征。最早由瑞士的Melkersson于1928年描述颜面水肿及面瘫表现，后由德国Rosenthal于1930年描述皱襞舌的特征性表现，至1949年该三联征被命名为Melkerssorr Rosenthal综合征，国内罕见报道，现将本院收治的1例报道如下。     

大剂量甲基强的松龙治疗Melkersson-Rosenthal综合征

Melkersson-Rosenthal综合征(MRS)是一种罕见的未知病原的临床综合征。典型表现是复发性口面部肿胀、面神经麻痹及沟纹舌。大多数病例系家族性发病,一般认为是常染色体显性遗传伴不同表达方式。作者报告1例应用大剂量甲基强的松龙治疗的MRS患者。     

Melkersson-Rossenthal综合征1例报告(附国内30例临床病理分析)

Melkersson-Rossenthal综合征(MRS)系以周围性面瘫,反复唇面水肿、皱襞(裂纹)舌为特征的综合征.截止2001年6月,国内已公开报道29例,现将我院收治的1例报告如下,并结合国内30例临床病理作一分析.     

Melkersson-Rossenthal综合征1例并国内36例临床病理分析

目的　提高对Melkersson Rossenthal综合征 (MRS)的认识。方法　报告 1例患者的临床症状和病理特点 ,并复习了国内已报道的 3 6例MRS的临床和病理特点。结果　 3 6例MRS患者均有周围性面瘫 ,3 5例有面肿 ,3 0例有皱裂舌。 9例病程过程中曾被误诊 ,6例行唇部病理活检均示真皮浅层淋巴细胞弥漫性侵润。结论　国内MRS以完全型、病理为淋巴水肿型多见     

梅-罗综合征研究新进展

梅-罗综合征(Melkersson-Rosenthal syndrome,MRS),国内也称"肉芽肿性唇炎综合征",又称复发性唇面面瘫综合征,或巨唇-面瘫-皱襞舌综合征,是一种少见的非干酪性肉芽肿性疾病,临床以复发性唇面肿胀、间歇性面瘫、沟纹舌为主要表现,并被认识到肉芽肿性唇炎与MRS有关,目前已有多项研究证实了这种相关性,肉芽肿性唇炎被认为是MRS的单症状型[1].     

Melkersson-Rossenthal综合征1例并国内36例临床病理分析

目的提高对Melkersson-Rossenthal综合征(MRS)的认识。方法报告1例患者的临床症状和病理特点，并复习了国内已报道的36例MRS的临床和病理特点。结果36例MRS患者均有周围性面瘫，35例有面肿，30例有皱裂舌。9例病程过程中曾被误诊，6例行唇部病理活检均示真皮浅层淋巴细胞弥漫性侵润。结论国内MRS以完全型、病理为淋巴水肿型多见。     

Melkersson—Rosenthal综合征：（附1例报告）

Melkersson—Rosenthal综合征(简称MRS)系以周围性面瘫、反复唇(面)水肿、皱襞(裂纹)舌为特征的少见综合征。国内已报告20余例,典型三联征少见。现将我院收治的1例报告如下。     

Early detection of neuropathophysiology using diffusion-weighted magnetic resonance imaging in asymptomatic cats with feline immunodeficiency viral infection

HIV infection results in a highly prevalent syndrome of cognitive and motor disorders designated as HIV-associated dementia (HAD). Neurologic dysfunction resembling HAD has been documented in cats infected with strain PPR of the feline immunodeficiency virus (FIV), whereas another highly pathogenic strain (C36) has not been known to cause neurologic signs. Animals experimentally infected with equivalent doses of FIV-C36 or FIV-PPR, and uninfected controls were evaluated by magnetic resonance diffusion-weighted imaging (DW-MRI) and spectroscopy (MRS) at 17.5–18 weeks post-infection, as part of a study of viral clade pathogenesis in FIV-infected cats. The goals of the MR imaging portion of the project were to determine whether this methodology was capable of detecting early neuropathophysiology in the absence of outward manifestation of neurological signs and to compare the MR imaging results for the two viral strains expected to have differing degrees of neurologic effects. We hypothesized that there would be increased diffusion, evidenced by the apparent diffusion coefficient as measured by DW-MRI, and altered metabolite ratios measured by MRS, in the brains of FIV-PPR-infected cats relative to C36-infected cats and uninfected controls. Increased apparent diffusion coefficients were seen in the white matter, gray matter, and basal ganglia of both the PPR and C36-infected (asymptomatic) cats. Thalamic MRS metabolite ratios did not differ between groups. The equivalently increased diffusion by DW-MRI suggests similar indirect neurotoxicity mechanisms for the two viral genotypes. DW-MRI is a sensitive tool to detect neuropathophysiological changes in vivo that could be useful during longitudinal studies of FIV.     

A study of familial MELAS: evaluation of A3243G mutation, clinical phenotype, and magnetic resonance spectroscopy-monitored progression

The clinical manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS syndrome) are nonspecific and can easily be misdiagnosed. Magnetic resonance spectroscopy (MRS)-based detection of lactate in the brain has been found to be of diagnostic help in MELAS syndrome, however, the issue of whether MRS features vary by stage remains unresolved. We assessed the causative mutation and radiological features of a family of MELAS. Four of the family members harbored the A3243G mutation, probably of maternal inheritance. However, the clinical phenotypic expression was different in these patients. MRS showed a lactate peak, decreased N-acetylaspartate, choline, and creatine, which became more pronounced with progression of the disease, demonstrating that brain-MRS-based detection of lactate may be a suitable way to monitor the progression and treatment of MELAS.     

Miller-Fisher综合征临床特点分析

目的 分析6例Miller-Fisher综合征的临床特点及预后.提高对Miller-Fisher综合征的认识.方法 对6例临床诊断为Miller-Fisher综合征患者的临床表现、脑脊液检查、肌电图和影像学的资料进行全面分析,并综合文献,阐述该病的临床特点、病因和发病机制.结果 临床分析发现6例Miller-Fisher综合征患者均具有眼外肌麻痹、共济失调、腱反射减弱或消失三联征,脑脊液蛋白细胞分离是该病的特征性表现,部分病人还合并延髓性麻痹、轻微肌无力,感觉异常及植物神经功能紊乱等.结论 根据临床特点、结合脑脊液检查及肌电图检测,Miller-Fisher综合征能确诊,头颅CT或MRI有助鉴别诊断,病人预后良好.     

Role of magnetic resonance spectroscopy in diagnosis and management of multiple sclerosis

Application of magnetic resonance spectroscopy (MRS) to study the nature, pathogenesis, tissue injury and therapeutic response of MS patients has altered our view of multiple sclerosis (MS) fundamentally. By offering biochemical analysis of demyelinating lesions and axonal injury, MRS generates objective and quantifiable data on central nervous system tissue and metabolism during pathogenesis of MS. Of these biochemical markers, N-acetylaspartate, which serves as an indicator of neuronal and axonal injury and choline (Cho) peaks which demonstrate cell membrane metabolism, provide a plethora of data on the neuropathology of MS. Based on these findings, MRS provides neuroscientists with a unique diagnostic and prognostic tool to follow MS patients and assess their response to treatment with immunomodulators. MRS findings are so significant that consideration should be given to their routine inclusion as secondary outcome measures in clinical trials of MS patients.     

Posterior reversible encephalopathy as the initial manifestation of a Guillain–Barré syndrome

We report a female patient with posterior reversible encephalopathy syndrome as the initial manifestation of a Guillain–Barré syndrome. She presented with headache and paraesthesias of the fingertips three days after gastroenteritis. Examination revealed hypertension and tachypnoea. Brain MRI showed a bi-occipital vasogenic edema consistent with the syndrome. Subsequent examination showed a tetraparesis. Cerebrospinal fluid analyses revealed albuminocytologic dissociation and the diagnosis of Guillain–Barré syndrome was made. The typical radiological and clinical features of posterior reversible encephalopathy syndrome (headache and hypertension) were present prior to the clinical manifestation of Guillain–Barré syndrome. We suggest posterior reversible encephalopathy syndrome to be considered as an initial manifestation of Guillain–Barré syndrome.     

伴有发汗异常的Holmes-Adie综合征(附1例报告)

目的探讨Holmes-Adie综合征(HAS)的临床表现、病理特点及发病机制。方法对1例伴有发汗异常的HAS患者的临床资料结合文献进行分析。结果该患者具有典型的Adie瞳孔、下肢腱反射消失等HAS临床表现及发汗过多等自主神经功能异常症状,眼科裂隙灯检查证实为HAS特征性瞳孔;头颅MRI示腔隙性脑梗死;瞳孔睫状神经节部分性或完全性失神经是HAS主要病理特点。结论HAS病因不明,具有特征性瞳孔表现,与自主神经功能异常有一定关联,需与Ross综合征及Harlequin综合征等疾病相鉴别。     

以急性可逆性意识模糊或浅昏迷为主要临床表现的CADASIL（附1例报道）

目的报道1例以急性可逆性意识模糊或浅昏迷为主要临床表现的伴皮质下梗死和白质脑病的常染色显性遗传性脑动脉病（Cerebral autonomic dominant arteriopathy with subcortical infarcts and leucoencephalopathy，CADASIL），探讨其临床特点和可能的发病机制。方法对1例临床表现为反复发作的发热、头痛、呕吐、意识模糊或浅昏迷的患者，进行临床、影像学、皮肤活检检查。结果患者临床表现为反复发作的发热、头痛、呕吐、意识模糊或浅昏迷，MRI见广泛的脑白质病变，皮肤活检光镜下见小动脉含糖原颗粒，管腔狭窄，电镜下见血管内皮下黑色嗜锇颗粒沉积。结论CADASIL可以表现为急性可逆性意识障碍或浅昏迷，当临床上出现用其它原因不能解释的急性可逆性意识障碍时，需考虑CADASIL的可能。     

Vasculitic neuropathy.

Peripheral neuropathy is common in many vasculitic syndromes and may be the only manifestation of the underlying vasculitic disease. Although traditional teaching has been that a true multiple mononeuropathy is the classic clinical presentation of vasculitic neuropathy, an overlapping (or extensive) multiple mononeuropathy or a distal symmetric polyneuropathy is commonly encountered. Similarly, the leukocytoclastic reaction has traditionally been considered the primary mechanism of vessel injury in these diseases, although more recent evidence suggests that cellular-mediated mechanisms may be more important in peripheral nerve. In this review, new concepts concerning the clinical presentation, pathogenesis, diagnosis, and treatment of vasculitic neuropathy are discussed, particularly in relation to the syndrome of isolated peripheral nerve vasculitis.     

Neuroimaging Findings in Hyperargininemia

In hyperarginenemia, there is a defect in argininase enzyme, which is a catalyzer of urea cycle. Though the pathogenesis of neuronal damage in hyperargininemia is not clear, high serum and cerebrospinal fluid arginine levels can be directly related with neuronal damage. In this study, our aim was to assess brain magnetic resonance images and magnetic resonance spectroscopy (MRS) patterns of two siblings with hyperarginenemia. We acquired single voxel MRS from the white matter to show the myelination pattern and to figure out any abnormal peak of metabolite stored due to enzymatic defect. We observed mild cerebral and cerebellar atrophy and infarct at bilateral posterior putamen and insular cortex localization on conventional images and elevated choline/creatine ratios and abnormal peak at 3.8 ppm, most likely representing arginine deposition. To the best of our knowledge, this is the first article revealing the brain MRS pattern of hyperargininemia. We reported the clinical and imaging findings of patients and discuss the correlation.     

原发性干燥综合征引起脑桥中央髓鞘溶解症的临床与影像学特征分析

目的：探讨原发性干燥综合征（pSS）引起的脑桥中央髓鞘溶解综合征（CPM）的临床及影像学特征。方法：分析1例pSS引起的CPM临床资料并与国外报道的1例pSS患者进行比较。结果：pSS患者表现为吞咽困难、构音障碍及四肢瘫痪，MRI示桥脑异常信号；给予甲泼尼龙冲击冶疗后，症状明显缓解。国外报道的1例表现为四肢瘫痪和缄默症，MRI示桥脑异常信号，给予甲泼尼龙及静脉注射丙种球蛋白治疗后，症状缓解。结论：pSS引起的CPM是极罕见疾病，经免疫抑制治疗可获得良好预后。