以反复脑梗死为首发症状的POEMS综合征1例报告并文献复习

目的探讨POEMS综合征伴发脑梗死的临床特点。方法报道1例合并反复脑梗死的POEMS综合征病例,结合国内外文献对POEMS综合征合并脑梗死的临床表现、发病机制及治疗予以分析总结。结果 POEMS综合征伴发的脑梗死好发于中年人群,常在周围神经病变起病20 m后发生。以偏瘫为最常见的首发表现,梗死灶以大脑中动脉支配区为主,50%的患者存在颅内血管异常。骨髓浆细胞增殖与血小板增多可能参与脑梗死的发生,积极治疗原发病可降低脑梗死的复发率。结论 POEMS综合征是脑梗死的少见病因,原发病的治疗是预防脑梗死复发的重要手段。     

伴主动脉夹层的IgG kappa型POEMS综合征1例

POEMS综合征较为罕见,是一种与浆细胞单克隆增殖相关的多系统疾病,可累及全身的动脉或静脉,常表现为合并心肌梗死、脑梗死、脑出血、烟雾病、视网膜动脉闭塞、血管炎等,然而以主动脉夹层为主要伴发症状之一的POEMS综合征尚未见相关的文献报告。本文报告首例以主动脉夹层为首发伴发表现的IgG kappa型POEMS综合征患者。     

POEMS综合征的重新认识

POEMS综合征是一种病因未明的、罕见的单克隆浆细胞疾病,以多发性周围神经病变、M-蛋白为突出表现。近年来对该病的研究有了较大的进展,免疫球蛋白λ轻链可变区(IGLV)、血管内皮生长因子(VEGF)、1型前胶原氨基端延长肽(P1NP)的检测能提高诊断的准确性;在传统的放疗、化疗之外,免疫调节剂、抗VEGF的靶向治疗、自体造血干细胞移植等方法给治疗提供了更多的方案。本文将就POEMS综合征特点、研究及诊疗进展作简单的归纳。     

POEMS综合征一例

1病例报告患者男,63岁。因"双下肢无力7年,加重伴胸闷10余天"入院。2003-03患者开始出现双足拇指无力,渐向近端发展,伴有麻木感及下肢水肿。曾就诊于社区医院,诊断为"吉兰-巴雷综合征",经糖皮质激素治疗1周,症状有所好转。后陆续出现精神淡漠、阳痿、消瘦、胸闷、慢     

POEMS综合征5例报道

POEMS综合征(或者Crow-Fukase综合征)是一种病因未明的伴有神经、内分泌、血液、消化、皮肤、肾脏等多个系统损害的综合征.总结了本院最近2年发现的5例患者的临床特点, 现报道如下.     

血清血管内皮生长因子在诊断POEMS综合征中的作用(附2例报告)

目的探讨血清血管内皮生长因子(VEGF)在诊断POEMS综合征中的作用。方法结合2例疑诊POEMS综合征的临床资料,探讨血清VEGF检测对POEMS综合征诊断的作用。结果 POEMS综合征在神经系统副肿瘤综合征中并不少见,在不合并其他系统损害的相关症状体征时,与慢性炎性脱髓鞘性周围神经病难以鉴别。POEMS患者VEGF水平明显升高,能提高诊断的敏感度和用于鉴别诊断。但是寻找克隆性浆细胞疾病或Castleman病更是诊断的核心依据。结论血清VEGF水平升高在POEMS综合征患者中常见,是主要的诊断标准之一,同时也是评估疾病活动性的有效指标。     

POEMS综合征一例报告

1 病例报告 患者女，44岁。因四肢麻木、无力2年余伴全身浮肿1年就诊。患者于1999-07“感冒”发热后，开始出现右足麻木伴跛行，10d后出现左足麻木伴背屈困难，症状渐重，致四肢末端呈手(袜)套样麻木。3个月后向近端发展至肩部和下腹部，出现四肢无力，行走困难，站立不稳，大小便无知觉。在当地按“多发性神经炎”治疗3个月好转(用药及剂量不详)，     

POEMS综合征—附8例报道及文献综述

POEMS 综合征为一少见的多系统疾病,常有多发性神经病、脏器肿大、内分泌病、M-蛋白和皮肤改变的症状,POEMS 是表示上述症状的字冠。诊断本综合征至少有上述三个症状,而且多发性周围神经病和浆细胞病是诊断该综合征主要的症状。本文报道8例患者,对其临床、实验室检查和治疗进行了分析和讨论。     

POEMS综合征

目的 对我院的５例ＰＯＥＭＳ患者进行分析并进行文献复习。方法 报告各患者的临床表现体征之特点、实验室检查及病理结果,结合近５年国外文献进行发发病机制及治疗方面的讨论。结果 ５例患者的确诊经过了５月～２年不等的时间,临床上有心梗、伴有锥体束征、血小板显著增高等少见表现。结论 ＰＯＥＭＳ综合征是多系统的病变,应注意哆系统的检查,尤其是神经系统的检查,这样或许能减少该病的误诊。     

POEMS综合征

<正> POEMS综合征是指多发性神经病变、脏器肿大、内分泌病变、M—蛋白和皮肤病变的第一个英文字母缩写命名的临床综合征。1956年Crow及Fukase首先报道故又名Crow—FuKase综合征。国外已报道150多例,文献多采用POEMS综合征,国内已有少数个案报道。 一、POEMS综合征发病机理及病理     

Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria

Intracranial calcification and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome. This emerging entity has been registered in eight families so far. We report on five patients from three unrelated Italian families affected by pseudo-TORCH syndrome. Reevaluation of literature allowed us to draw a specific clinical profile of the syndrome. Indeed, congenital microcephaly, congenital cerebral calcification, spasticity and seizures are the main clinical features, and have been present in almost all patients reported so far. On the contrary, findings resembling congenital infectious diseases including neonatal icterus, hyperbilirubinemia, thrombocytopenia, and hepatomegaly, affect less than half of the patients.Considering the diagnosis of pseudo-TORCH syndrome in patients with neonatal microcephaly and cerebral calcification is necessary since an early diagnosis may allow adequate genetic counseling to the families.     

POEMS综合征3例报告并文献复习

目的对POEMS综合征的临床特点进行总结,以提高对此病的掌握与鉴别诊断能力。方法报道3例POEMS综合征患者临床表现、实验室检查、治疗方法及转归并复习相关文献。结果 3例患者均存在周围神经病变,其中2例男性患者以双足底踩棉花感为首发表现,逐渐出现双下肢麻木无力、肌肉萎缩、局部水肿、皮肤颜色变黑、男性乳腺发育等症状,1例女性患者以面部、四肢皮肤及乳头变黑为首发表现,逐渐出现足底踩沙感,双下肢麻木无力、闭经、水肿等症状。3例患者免疫固定电泳均检测出M蛋白;1例患者病程中曾查M蛋白阴性,至病程终末期出现血M蛋白及本周氏蛋白尿。3例从首诊到确诊时间分别为16个月、3 y和5 y。对3例患者进行随访观察,1例患者症状改善明显,2例确诊较晚患者死亡。结论 POEMS综合征是一组较少见的与浆细胞病变相关的副肿瘤综合征。临床表现多样,确诊时间较长,早期病例易被误诊,需仔细分析临床及实验室检查资料避免误诊误治。     

Rett syndrome: review and discussion of current diagnostic criteria

Rett syndrome is a mental retardation syndrome that occurs only in females and consists of normal pre-, peri-, and neonatal growth and development. It is followed by rapid neurobehavioral deterioration in late infancy or early childhood, a developmental arrest, plateauing, and then either a course of retarded development or continued deterioration. The period of rapid neuro-behavioral deterioration manifests as a partial autistic syndrome, with loss of production and comprehension of language, hyperactivity, hyperventilation, hand-wringing, and ataxic gait. Current diagnostic criteria are discussed and suggestions for further research are presented.     

Male Rett syndrome variant: application of diagnostic criteria

Classic Rett syndrome (RS) has been described in females only. Although an X chromosome origin is probable, it has not been substantiated. It is possible, therefore, that RS could occur in males. The authors describe a male with RS and review all the reported cases involving male patients. The authors compare their patient to the other patients and examine the applicability of the classic RS diagnostic criteria to this variant. To date, nine male patients with RS have been reported. The authors describe an additional male who met seven of nine necessary criteria and six of eight supportive criteria as defined by the RS Diagnostic Criteria Work Group. When the authors applied these criteria to the other nine reported patients, many necessary inclusion criteria were not met despite the absence of exclusion criteria. The supportive criteria were even more variable and limited in many patients. In conclusion, males with RS appear to represent a heterogeneous phenotype, with clinical features that may meet many but not all of the necessary diagnostic criteria of classic RS. Less restrictive criteria are needed to include this variant, which should be considered when evaluating males with idiopathic developmental regression, autistic features, and loss of hand function.