Successful weaning after plasma exchange for polyneuropathy related to POEMS syndrome

Respiratory failure due to polyneuropathy associated with POEMS syndrome (Polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes) is unusual. In this report, we describe a 47‐year‐old male patient with polyneuropathy related to POEMS syndrome who suffered from hypercapnic respiratory failure due to progressive weakness of the respiratory muscles. His respiratory muscle strength significantly improved after plasma exchange and was extubated successfully. To our knowledge, this is the first case of POEMS syndrome with aggressive polyneuropathy that was successful treated by plasma exchange and our experience provides insight regarding the optimal management of such patients. J. Clin. Apheresis, 2009. © 2009 Wiley‐Liss, Inc.     

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.     

Sonographic findings in glomus tympanicum tumor

A glomus tympanicum tumor that is associated with a visible retrotympanic mass is the most frequent cause of pulsatile tinnitus. The preoperative diagnostic approach to this lesion includes a meticulous physical examination as well as high-resolution CT, magnetic resonance angiography, and digital angiography, which can also be used for preoperative embolization. We report the use of color transcranial Doppler sonography in the evaluation of glomus tympanicum tumor in a 67-year-old woman with a 3-year history of left tinnitus. An otoscopic examination revealed a reddish pulsatile mass behind an intact tympanic membrane. No lesions were visualized on gray-scale sonography. Contrast-enhanced color transcranial Doppler sonography showed a vascular ovoid mass that measured 2 x 1 x 1 cm; spectral analysis of the lesion revealed arterial flow with a low resistance index. Color transcranial Doppler sonography helped define the dimensions and vascular characteristics of the lesion.     

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。     

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。     

Sonographic findings in ectopic cervical thymus in an infant.

We present the case of a 28-day-old boy with ectopic thymic tissue in the neck. Sonography showed a well-delineated, homogeneous lesion in the left submandibular region that was isoechoic relative to the mediastinal thymus. The lesion had angular margins and lacked a mass effect despite its large size (3 x 2 cm). On power Doppler imaging, arteries with an intermediate-impedance flow pattern were seen entering the lesion from the inferior and lateral margins. On both T1- and T2-weighted MR images, the lesion was isointense relative to the mediastinal thymus and had higher and lower signal intensity than muscle and fat, respectively. A sonographically guided needle biopsy confirmed the diagnosis of ectopic thymus.     

Sonographic findings in a fetus with megacystis-microcolon–intestinal hypoperistalsis syndrome

We describe the perinatal findings in a female fetus with megacystis-microcolon–intestinal hypoperistalsis syndrome (MMIHS). Prenatal sonography performed during 18–21 weeks' gestation showed a normal amount of amniotic fluid, but the fetus was seen to have a persistently distended stomach, a hugely distended bladder, and bilateral dilated renal calyces. Genetic analysis of amniotic fluid revealed a 46,XX karyotype. The pregnancy was terminated at 22 weeks' gestation. At necropsy, the fetus was found to have prune-belly syndrome, gastric dilatation, pronounced megacystis, bilateral hydronephrosis and megaureters, short bowel, microileum, microcolon, and malrotation of the intestines. This fetus showed the typical clinical and sonographic features of MMIHS, as well as the rare antenatal finding of persistent gastric distention. © 1998 John Wiley & Sons, Inc. J Clin Ultrasound 26:217–220, 1998.     

Gray-scale and color Doppler sonographic findings in a case of subacute granulomatous thyroiditis mimicking thyroid carcinoma

Subacute granulomatous thyroiditis is a common disease of unknown cause and is usually self-limiting, with complete resolution of symptoms occurring spontaneously or after steroidal treatment. We report a case of subacute granulomatous thyroiditis in a 62-year-old woman whose clinical presentation was consistent with thyroid carcinoma. Gray-scale and color Doppler sonography revealed marked enlargement of the left lobe of the thyroid and markedly hypoechoic, ill-defined focal areas in both lobes. No flow was noted on color Doppler sonographic examination. Fine-needle aspiration of the thyroid was performed, and histopathologic examination of the specimen confirmed the diagnosis of subacute granulomatous thyroiditis. The patient received prednisolone therapy (20 mg/day) for 2 weeks and recovered well. This case report is the first to describe the gray-scale and color Doppler sonographic appearances of subacute granulomatous thyroiditis. This disease should be included in the differential diagnosis of patients with clinical signs and symptoms of thyroid carcinoma. Histopathologic examination is necessary to confirm the diagnosis.     

Intracranial cystic lesions and polydactyly associated with acrocallosal syndrome: Sonographic findings in two cases

We describe two cases of intracranial cystic lesions associated with acrocallosal syndrome. These fetal anomalies were detected on antenatal sonography and confirmed postnatally. Imaging findings include corpus callosum agenesis with interhemispheric cysts and craniofacial anomalies associated with polydactyly. Identifying the above imaging features is of importance to plan management and provide supportive care that may be required.     

POEMS综合征的诊断和治疗

POEMS综合征是一种罕见的克隆性浆细胞疾病,近年来在POEMS的诊断和治疗方面都取得了很大进展.作者将重点阐述POEMS综合征的诊断标准以及早期诊断的要点.在治疗方面,自体造血千细胞移植由于其较好的疗效已经成为年轻POEMS综合征患者的一线治疗.马法兰联合地塞米松也有着较高的缓解率和很好的安全性,可以作为老年或其他不适合移植患者的治疗选择.新药例如来那度胺等给POEMS综合征患者提供了更多的治疗选择.     

Sonographic findings in a neonate with cobb syndrome

Cobb syndrome (cutaneomeningospinal angiomatosis) is a rare phacomatosis characterized by vascular abnormality of the spinal cord associated with a vascular naevus at the same metamere. We report the case of a newborn with Cobb syndrome, diagnosed by sonography of the spine and later confirmed by MRI. In neonates and young infants with dermatomal cutaneous vascular abnormalities, sonography of the spine should be used as the first imaging modality. © 2012 Wiley Periodicals, Inc. J Clin Ultrasound, 2013     

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.     

POEMS综合征合并急性脑梗塞

目的　观察和探讨POEMS综合征与急性脑梗塞的内在相关性。方法　报道 1例确诊为POEMS综合征的男性病人 ,在病后半年突然出现左侧肢体完全偏瘫 ,通过对临床、血液有形成分、电生理及影像学进行研究。结果　血红细胞、血红蛋白、血小板计数及血细胞压积明显增高 ,肌电图显示广泛神经传导速度减慢 ,骨盆片可见骨硬化病灶 ,头颅MRI显示右侧大脑颞、额、顶、枕大面积脑梗塞。结论　POEMS综合征可以引起广泛的血管病变包括大血管、中小血管及毛细血管 ,成为导致血管闭塞的直接原因 ,而微血管病变可能在POEMS综合征的发病机制中起重要作用。     

Posterior mediastinal arteriovenous malformation with atypical color Doppler sonographic findings

An arteriovenous malformation (AVM) is an anomaly of capillary development that results in a direct connection between branches of an artery and veins, with no intervening capillary network. A definite diagnosis of AVM is usually made with angiography. We report the case of a posterior mediastinal AVM found on routine sonography in a 64-year-old woman with neglected hypertension and severe back pain. Color Doppler imaging showed 2 adjoined vascular structures without a typical mosaic-like flow pattern, and spectral Doppler analysis showed low-resistance flow and arteriovenous shunting in 2 adjoined vascular structures. The diagnosis was subsequently confirmed by angiography. Because disastrous bleeding could result if needle biopsy were performed inadvertently in the case of a suspected mediastinal AVM, we suggest that color Doppler sonography be attempted if there is an adequate acoustic window.     

Segmental testicular infarction as a complication of varicocelectomy: sonographic findings

Segmental testicular infarction is a rare clinical entity with various causes. We report the gray-scale and color Doppler sonographic findings of a case of segmental testicular infarction associated with varicocelectomy.     

低度恶性子宫内膜间质肉瘤的超声表现分析

目的：分析低度恶性子宫内膜间质肉瘤（ESS）的超声特点,降低术前误诊率。方法：回顾性分析11例经手术及病理证实的低度恶性ESS的超声表现。结果：11例患者中,7例病灶位于肌壁间,4例位于宫腔;最大直径长径20~130 mm,平均为50.7 mm;形态为椭圆形8例、不规则2例、类圆形1例;边界清晰7例,不清晰4例;病灶内部回声均不均匀,低回声为主8例,等回声为主3例;呈＂斑片状＂表现6例,筛孔状暗区3例,中间为等回声,外周为低回声2例。4例合并其他疾病的低度恶性ESS病灶回声均与合并疾病病灶回声不一致。11例病灶中边缘及内部均可探及彩色血流信号,RI 0.41~0.78。结论：当超声发现肿瘤边界不清晰,向肌层浸润可能;内部回声不均匀,呈＂斑片状＂;子宫肿瘤内常合并其他性质病灶存在,而呈现多个病灶回声不一致声像;肿瘤边缘及内部探及中量血流,尤其是月经增多的育龄妇女,应警惕低度恶性ESS发生。     

以腹水为突出表现的M蛋白阴性的POEMS综合征变异型一例

POEMS综合征是与浆细胞疾病相关的一种临床少见病。经典五联征包括：多发性周围神经病、器官肿大、内分泌障碍、M蛋白血症和皮肤病变。由于其罕见性、多系统受累及临床高度异质性,漏诊率和误诊率均较高。现报道1例以腹水为突出表现的M蛋白阴性的POEMS综合征变异型。