以急性心肌梗死为突出表现的POEMS综合征1例报告

1引言 POEMS综合征是一种临床少见的多系统损害的临床征候群,以其常见临床表现:多发性神经病(polyneuropathy)、脏器肿大(organomegaly)、内分泌病变(endocrinopathy)、单克隆球蛋白病(monoclonal gammopathies)和皮肤病变(skin change)的头1个字母组合命名.本院曾诊治1例以急性前间壁心肌梗死为突出表现的POEMS综合征,现报道如下.     

Castleman病变异型POEMS综合征一例

本文报道1例以发热、胸腹水起病, 相继出现皮肤、内分泌系统及神经系统多系统受累的无M蛋白的Castleman病变异型POEMS综合征病例。通过对患者临床表现、实验室检查结果及治疗反应的分析, 加强临床医生对不典型POEMS综合征的认识。     

POEMS综合征一例误诊为重叠综合征

1病例资料 女,44岁。因四肢关节肌肉疼痛、皮肤色素沉着,加重伴体重下降10个月就诊。患者10个月前无明显诱因出现四肢大小关节、肌肉疼痛,颜面及四肢皮肤逐渐变黑,双手指肿胀僵硬。当时未给予重视,但上述症状逐渐加重伴体重下降,在外院诊断为系统性红斑狼疮,未用药,为明确诊断就诊我科门诊。     

POEMS综合征22例临床分析

本研究探讨我国POEMS综合征的临床特点。回顾性分析中国人民解放军总医院22例POEMS综合征的临床特征。结果表明：患者平均年龄47．7岁,男：女=2．67;首发症状以无力最多;神经系统病变见于所有病例,主要表现为无力、麻木,肌电图神经源性损害,脑脊液常有压力和蛋白升高。脑脊液蛋白电泳可见单克隆带阳性;肝脾、淋巴结肿大常见;内分泌病变占95．5％,以性腺功能减退最为常见;M蛋白检查中以免疫固定电泳阳性率最高为92．9％,免疫球蛋白类型中IgA多于IgG,轻链以入型多见,但小部分患者出现K型轻链。皮肤改变为色素沉着、多毛、多汗。结论：本组病例临床特征基本上与国内外报道的相似,但与国外报道病例不完全相同,有一定差异。     

以水肿为首发症状的POEMS综合征1例报告

目的:了解POEMS综合征临床特点及诊疗思路;方法:对1例以水肿为临床表现的POEMS综合征进行临床分析及近几年临床文献复习;结果:患者存在双下肢凹陷性水肿,慢性进展性感觉运动性多发性神经表现,伴有色素沉着、多毛、白甲等皮肤改变,辅助检查提示肝脾等器官肿大,甲状腺功能减退,硬化性骨改变,Ig A、λ泳道发现异常单克隆免疫球蛋白,最终诊断为POEMS综合征;结论:POEMS综合征误诊率极高,且预后差,治疗方案仍在进一步研究中,早期的诊断对提高患者的生存率及改善患者的生活质量是及其重要的。     

POEMS综合征1例报告

1 病例报告 患者,男,33岁,教师.因双侧乳房增大伴乳房肿块7个月,颜面及双下肢水肿、双下肢无力6个月,跛行4个月于2003-03-20入院.患者于7个月前始无明显诱因出现双侧乳房增大伴乳房肿块,直径约2 cm,伴乳晕颜色加深、性欲减退.     

以皮肤色素沉着、腹水为首发症状的POEMS综合征1例

POEMS综合征是可导致多系统器官受到损害的浆细胞异常增生性疾病。其主要表现为：多发性神经病（Polygneuropathy）、脏器肿大（Organomegaly）、内分泌病（Endorinopathy）、M蛋白（M-protein）和皮肤改变（Skin-changes）。取英文之首字母，称为POEMS综合征。通常又称为Crow-Fukase综合征。尽管在国内外已有不少报道，但仍有很多方面依然不甚了解，临床漏诊、误诊屡见不鲜。2007年我院收治Crow-Fukase综合征1例，现报告如下。     

POEMS综合征一例

1临床资料女,24岁。因全身疼痛、四肢麻木、乏力半年,加重伴呼吸困难3天入院。既往曾3次出现类似情况,均无明显诱因出现全身痛、四肢麻木、乏力,伴上腹隐痛不适、间断双下肢水肿,月经量增多,经期无改变,无发热、咳嗽、流涕、腹痛、腹泻、便秘,院外治疗(具体不清)后症状有所缓解,水肿消失,全身皮肤色泽加深,局部可见少许色素沉着。本次入院后感四肢乏力加重、呼吸费力,四肢肢端麻木,有异样感。父亲有类似周期性全身乏力、四肢麻木病史,6年前死于“肾病综合征、尿毒症”。查体:体温36.5℃,脉搏90/m in,呼吸22/m in,血压120/68 mmHg。意识清,…     

POEMS综合征一例报告

POEMS综合征临床表现复杂多样,有多系统的损害,易产生漏诊、误诊,现报告一例典型POEMS综合征并进行文献复习。1病例介绍患者,男,46岁,因双下肢麻木,乏力2年,皮肤变黑6月余,双下肢浮肿3月入院。患者2年前无明显诱因出现双足底发麻、乏力,对称性,无头痛、恶心、呕吐、未予诊治,半年前出现全身皮肤颜色变黑,伴双足底麻木逐渐向上发展至双膝,双上肢及颜面部,伴胸闷、头痛、多汗。当地查尿苯-周氏蛋白(一)、血蛋白电泳(一)、抗核抗体(ANA)(一),骨髓病理示增生明显活跃,肌电图:神经源性损害,上下肢体感诱发电位异常。B超:脂肪肝、脾大,诊为P…     

Sonographic findings in a case of polyneuropathy associated with POEMS syndrome

Polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes (POEMS) syndrome is a rare multi-system disease. We describe the ultrasonography (US) and color Doppler ultrasonography (CDUS) findings of peripheral neuropathy in a patient with POEMS syndrome. In US examination, peripheral nerves were found to be diffusely thickned in both upper limbs. CDUS imaging showed arterial blood flow with low systolic peaks on the nerves.     

Therapeutic trial of plasma exchange in osteosclerotic myeloma associated with the POEMS syndrome

A patient with osteosclerotic myeloma and POEMS syndrome, unresponsive to pulse prednisone and melphalan therapy, was admitted to the hospital for a trial of plasma exchange therapy. The presentation included IgG lambda monoclonal gammopathy, peripheral neuropathy, hepatosplenomegaly, hyperpigmentation and thickening of the skin, edema, and tense ascites. Laboratory tests confirmed hypothyroidism, hypogonadism, and adrenal insufficiency. Six exchange procedures failed to affect the clinical course, and the patient died. Greater-than-one-plasma-volume exchanges (patient's measured plasma volume, 2,703 cc) were performed. When IgG and cholesterol removal were compared to the predicted removal, based on the volume of plasma removed, significantly less reduction in concentration than predicted was measured. IgG concentrations increased postapheresis and, at 2 weeks, three-fourths of the removed IgG had reaccumulated. A reduced efficiency of removal of both IgG and cholesterol can be explained by postulating increased vascular permeability with free exchange of soluble substances from one compartment to another. If an abnormal product is produced by the disease and is responsible for the clinical syndrome, a more intensive schedule of plasma exchange therapy may be needed to achieve a sustained depletion of the responsible soluble substance. Alternatively, neither increased vascular permeability or the clinical manifestations are responsive to removal of a soluble substance or are caused by a soluble substance produced by the malignancy.     

POEMS综合征的免疫学检测结果分析

目的分析研究POEMS综合征的免疫特征，为临床诊断与治疗提供依据。方法回顾性地对27例POEMS综合征患者血清蛋白电泳（SPE）、免疫固定电泳（IFE）以及免疫球蛋白定量结果进行分析。结果27例POEMS综合征患者M蛋白检出率IFE明显高于SPE；M蛋白IgG5例，IgA16例，IgA出现几率明显高于IgG，且均是λ型；另外16例SPE检测出M带的血清蛋白电泳结果与健康对照组比较差异有统计学意义。结论M蛋白阴性不排除对POEMS综合征的诊断，对M蛋白阴性患者除进一步多途径寻找依据外，还应更多参考临床表现。     

POEMS综合征的临床与周围神经病理分析

目的：探讨POEMS综合征的临床和周围神经病理特点。方法：回顾性分析5例POEMS综合征的临床特征和4例周围神经活检结果。结果：5例患者临床上均有感觉运动性周围神经损害和肢端凹陷性水肿，腹水3例，胸腔积液2例，心包积液2例。肝脏肿大2例，脾脏肿大3例，淋巴结肿大2例。皮肤变黑5例，多毛症3例。4例腓肠神经活检中，3例神经束膜增厚，束间小血管增多，周围散在有单核细胞。4例均可见脱髓鞘改变和有髓纤维减少，3例可见到少数纤维轴索变性。单神经纤维剥离检查4例，均可见阶段性脱髓鞘改变和薄髓纤维。结论：POEMS综合征是一组以多发性神经病、脏器肿大、内分泌病变、M蛋白、皮肤损害等多系统损害的临床症候群。周围神经病理改变主要为薄髓纤维和脱髓鞘改变，晚期可见轴索变性。     

A case of streptococcal toxic shock syndrome due to Group G streptococci identified as Streptococcus dysgalactiae subsp. equisimilis

A 79-year-old man with a 3-month history of lymphedema of the lower limbs, and diabetes mellitus, was admitted to our hospital for suspected deep venous thrombosis. Several hours after admission, leg pain and purpura-like skin color appeared. On the 2nd hospital day, he was referred to our department for possible acute occlusive peripheral artery disease (PAD) and skin necrosis with blisters; however, computed tomography with contrast showed no occlusive lesions. He had already developed shock and necrotizing deep soft-tissue infections of the left lower leg. Laboratory findings revealed renal dysfunction and coagulation system collapse. Soon after PAD was ruled out, clinical findings suggested necrotizing deep soft-tissue infections, shock state, disseminated intravascular coagulation, and multiple organ failure. These symptoms led to a high suspicion of the well-recognized streptococcal toxic shock syndrome (STSS). With a high suspicion of STSS, we detected Group G β-hemolytic streptococci (GGS) from samples aspirated from the leg bullae, and the species was identified as Streptococcus dysgalactiae subsp. equisimilis (SDSE) by 16S-ribosomal RNA sequencing. However, unfortunately, surgical debridement was impossible due to the broad area of skin change. Despite adequate antimicrobial therapy and intensive care, the patient died on the 3rd hospital day. The M-protein gene (emm) typing of the isolated SDSE was revealed to be stG6792. This type of SDSE is the most frequent cause of STSS due to GGS in Japan. We consider it to be crucial to rapidly distinguish STSS from acute occlusive PAD to achieve life-saving interventions in patients with severe soft-tissue infections.     

自体外周血造血干细胞移植治疗POEMS综合征的初步研究

目的 评价自体外周血造血干细胞移植(auto-PBSCT)治疗POEMS综合征的疗效和安全性.方法 9例POEMS综合征患者用大剂量马法兰预处理后进行auto-PBSCT治疗.男6例,女3例,移植时中位年龄44(39～48)岁.起病至移植的中位时间为12(5～60)个月.1例单用粒细胞集落刺激因子(G-CSF)进行外周血干细胞动员,8例采用化疗后注射G-CSF进行动员.2例马法兰剂量为140 mg/m2,7例为200 mg/m2.回输的中位单个核细胞(MNC)数量为3.75(1.05～8.33)×108/kg,中位CD34+细胞为5.37(1.32～10.90)×106/kg.结果 1例为序贯移植,其余患者为单次移植.1例患者移植后第9天死于严重感染和急性肾功能衰竭,其余8例均成功植入.8例患者可评价短期疗效,中位ANC≥0.5×109/L、BPC≥20×109/L的时间分别为10(9～11)d和11.5(9～14)d.2例分别在动员和移植后血清免疫固定电泳检测M蛋白转阴,其他患者移植后均未获得血液学完全缓解.6例伴有下肢水肿和皮肤病变的患者,除1例外,余均有不同程度的好转,1例伴淋巴结肿大患者移植后淋巴结缩小,3例伴视乳头水肿患者2例缓解.7例患者在移植后周围神经症状缓慢改善.结论 大剂量马法兰预处理后行auto-PBSCT治疗POEMS综合征有一定疗效,且安全性高,移植相关死亡率低.     

Immunoadsorption therapy for Klinefelter syndrome with antiphospholipid syndrome in a patient: A case report

BACKGROUNDKlinefelter syndrome (KS) is a genetic disease of male sex chromosome malformations that affects sperm production and reduces testosterone production. It has been reported that there is currently more than 10 cases of KS combined with antiphospholipid syndrome.CASE SUMMARYHere, we describe a 31-year-old male patient with chromosome 47, XXY type, who suffered deep vein thrombosis of the lower limbs accompanied by abnormal antiphospholipid antibody, lupus anticoagulant and factor VIII. After treatment with immunoadsorption therapy, glucocorticoids, cyclophosphamide, intravenous immunoglobulin and anticoagulant therapy, the patient showed dramatic symptomatic improvement. During the follow-up, the patient did not develop any new thrombotic events.CONCLUSIONImmunoadsorption combined with glucocorticoid and cyclophosphamide shock comprehensive treatment has achieved significant results for patients with KS combined with antiphospholipid syndrome.     

Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report

BACKGROUNDKabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. KMT2D and KDM6A mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of KDM6A gene mutation, in China. CASE SUMMARYThis study reports a de novo KDM6A mutation in a Chinese infant with KS. A 2-month-old Chinese baby was diagnosed with KS, which manifested as hypoglycemia, congenital anal atresia at birth, feeding difficulties, hypotonia, and serious postnatal growth retardation. He died of recurrent respiratory infections at age 13 mo. DNA sequencing of his blood DNA revealed a novel KDM6A frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19). CONCLUSIONWe present a Chinese KS patient with a novel KDM6A frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19), broadening the mutation spectrum.     

Alström syndrome with a novel mutation of ALMS1 and Graves’ hyperthyroidism: A case report and review of the literature

BACKGROUNDAlström syndrome (AS, OMIM ID 203800) is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients. In the Chinese population, there are few reports on the clinical manifestations and pathogenesis of AS. This is the first report on the association between AS and Graves’ hyperthyroidism.CASE SUMMARYAn 8-year-old Chinese girl was diagnosed with AS. Two years later, Graves’ hyperthyroidism developed with progressive liver dysfunction. The patient’s clinical data were collected; DNA from peripheral blood of the proband, parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes. The association between the patient’s genotype and clinical phenotype was analyzed. She carried the pathogenic compound heterozygous mutation of ALMS1 (c.2296_2299del4 and c.11460C>A). These stop-gain mutations likely caused truncation of the ALMS1 protein.CONCLUSIONThe manifestation of hyperthyroidism may suggest rapid progression of AS.