Ehlers-Danlos综合征合并脊柱侧凸1例诊治体会并文献复习

Ehlers-Danlos综合征(Ehlers-Danlos syndrome,EDS),又称为弹力过度性皮肤,伴皮肤和关节松弛及皮肤毛细血管破裂,是一种罕见的结缔组织遗传性疾病。常有骨骼肌肉系统受累,表现为关节疼痛、肿胀,关节不稳,脊柱畸形三联征。根据临床表现及病理、遗传学诊断,EDS可分为经典型、皮肤弹性异常增高型、血管型、脊柱侧后凸型、关节松弛型、皮肤脆弱型等13种分型[1]。     

胰腺血管活性肠肽瘤1例报告并国内文献复习

目的：探讨胰腺血管活性肠肽瘤（VIP瘤,VIPoma）诊断和治疗方法。方法：报告2013年1月遵义医学院附属医院收治的1例VIPoma,并检索1979—2013年国内文献,取其中资料相对完整的34例,对35例VIPoma临床表现、实验室检查、影像学检查、肿瘤位置、大小及有无转移、手术方式、病理学检查和随访资料进行临床分析。结果：周期性发作的分泌性腹泻、低钾血症、低胃酸或无胃酸分泌是本病的主要临床表现,血浆VIP水平增高具有诊断价值,经生长抑素或手术治疗后,水泻缓解或停止,血钾恢复正常,血浆VIP 明显下降。采用手术切除、射频消融、化疗、肝移植等治疗方法对于肝转移者均有效果。结论：VIPoma 诊断依赖于典型的临床症状和血浆VIP测定;B 超及CT检查是胰腺VIPoma定位诊断的可靠方法。生长抑素可缓解腹泻,手术切除为胰腺VIPoma有效治疗手段,姑息性切除亦可改善患者生活质量,延长存活时间。

     

巨大原发性肝血管肉瘤1例并文献复习

目的：探讨原发性肝血管肉瘤的临床病理特点、诊断及治疗方法。
方法：报告1例原发性肝血管肉瘤,并结合文献复习。
结果：患者临床症状及辅助检查无特异性,术前未能明确诊断,行手术切除治疗,病理检查示肿瘤主要由梭形细胞被覆的肿瘤血管样腔隙构成,特征为形成相吻合的血管通路;免疫组化表达血管内皮细胞标记,诊断为原发性肝血管肉瘤。术后化疗3次,随访7个月死于全身衰竭。
结论：肝血管肉瘤是一种罕见的高度恶性肿瘤,预后差,术前诊断非常困难,典型CT征象有助于本病的诊断,确诊依赖病理学检查和免疫组化;手术联合化疗有助于延长生存期。

     

Ehlers-Danlos综合征合并脊柱侧凸外科治疗附2例报告及文献复习

Ehlers-Danlos综合征为一组遗传性疾病,主要表现为全身皮肤及结缔组织弹性过度增加[1,2]。根据遗传、临床表现及生化改变可将其分为8种类型,其中Ⅵ型主要表现为皮肤弹性增大、关节过度活动,部分患者合并脊柱侧凸及眼球病变。该病十分罕见,其中Ⅵ型发病率低于1/50000。我们于199     

肝脏原发性鳞状细胞癌的诊断及治疗：附23例报告并文献复习

目的：探讨肝脏原发性鳞状细胞癌的临床表现及影像学特征、病因及治疗方法的选择和预后,提高对肝脏原发性鳞状细胞癌的认识、诊断及治疗水平。 方法：以“肝脏”、“肝脏肿瘤”、“肝脏占位”“鳞状细胞癌”对中国期刊网全文数据库、维普资讯网中文科技期刊数据库、万方数据库在1990—2013年国内公开发表的中文文献进行检索,统一纳入和排除标准;结合我院自2008—2010年诊治的2例患者,系统回顾临床资料,包括一般情况、症状体征、实验室和影像学检查、术前诊治情况、手术方式,进行随访,并复习病理切片。 结果：23例具有详细临床资料的肝脏原发性鳞状细胞癌患者中,21例行手术治疗,2例保守治疗,其中肝部分切除术10例,肝脏移植术2例,胆囊切除+胆管探查术1例,肝脏脓肿引流术3例,腔镜探查活检术1例,肝部分切除+胆管探查+T管引流术1例,肝门部胆肠吻合术1例,剖腹探查活检术2例;生存超过6个月的5例,其余均在6个月内死亡。 结论：应提高对PSCCL的认识,减少临床工作中的误诊和漏诊;早期诊断、早期治疗是该病治疗的关键。

     

一穴肛原癌1例并文献复习

目的：报道1例一穴肛原癌的诊疗经过,并进行文献复习。方法：回顾性分析1例一穴肛原癌临床资料。结果：一穴肛原癌是少见的肛管恶性肿瘤,约占肛管、大肠癌的1%,女性多见,多发生于齿状线或齿状线的下方,临床表现无特异性,易误诊为痔疮、皮脂腺囊肿等疾病,须靠组织病理学确诊。结论：多主张行手术为主辅以放疗和化疗的综合治疗,预后较一般直肠癌好。

     

主动脉夹层合并功能性肾上腺肿瘤2例报告并文献复习

目的:探讨主动脉夹层(AD)合并功能性肾上腺肿瘤间的关系。方法:回顾近年收治的AD合并功能性肾上腺肿瘤患者共2例,结合相关文献复习,分析两种疾病间的关系。结果:1例患者拒绝手术治疗,1例患者一期行AD腔内修复术、二期行肾上腺肿瘤腹腔镜切除术,术后恢复佳;英文文献中共报道9例AD合并肾上腺肿瘤患者,国内仅有2例相关报道,两种疾病间的关系分析提示,功能性肾上腺肿瘤所分泌的激素引起继发性高血压或直接作用于动脉壁可能导致AD形成。结论:AD合并肾上腺肿瘤罕见,两者可能存在一定的关联性,临床诊治过程中应严格筛查。     

家族性激素反应性肾病综合征一家系报告及文献复习

目的 报道家族性激素反应性肾病综合征，分析其临床病理特点及家族发病的特点，及其与NPHS2基因的关系。方法 分析患者临床及病理表现特点，并对其家族成员患病情况进行调查；与文献报告的家族性激素反应性肾病综合征对比。运用高效液相色谱(DHPLC)的方法检测该家系NPHS2基因突变。结果 该家族的患病情况符合文献报告的家族性激素反应性肾病综合征的定义，临床表现为肾病综合征，病理改变为肾小球微小病变，对足量的强的松治疗反应敏感，易复发，但发病年龄较国际上报道的中位年龄高。同国外同类报道一样，该家族中未发现NPHS2突变。结论 首次在国内报告家族激素反应性肾病综合征。该疾病在此家系中的发生与NPHS2无明显关系.     

胰岛素瘤1例报告并国内文献复习

目的：探讨胰岛素瘤（胰腺β细胞瘤）诊断和治疗方法。 方法：报告收治的1例胰岛素瘤患者并结合国内文献报道的1 362例胰岛素瘤患者资料进行分析。 结果：1 363例患者中,1 286例（94.35%）有典型Whipple三联征表现;1 099例计算胰岛素释放指数（IRI/G）患者中,1 019例（92.72%）IRI/G>0.3。术前B超、CT、MRI、选择性动脉造影（DSA）、选择性动脉内葡萄糖酸钙激惹实验（ASVS）、超声内镜检查（EUS）、经皮经肝门静脉置管分段采血测定胰岛素（PTPC）、生长抑素受体显像（SRS）、术中超声（IOUS）联合扪诊的肿瘤检出情况分别为40.90%（418/1 022）、55.20%（457/823）、52.45%（96/183）、77.42%（247/319）、89.47%（34/38）、78.68%（48/61）、86.11%（62/70）、36.36%（8/22）、93.97%（312/332）。所有患者均行手术治疗,其中1 006例（73.80%）行肿瘤剔除。病理诊断均为胰岛素瘤;42例（3.08%）为恶性变;98例（7.19%）多发;28.25%的肿瘤位于胰头部,33.90%位于胰体部,37.83%位于胰尾部。276例（20.25%）发生胰瘘。术后良性肿瘤复发16例,恶性病变复发7例。 结论：Whipple三联征和IRI/G>0.3可作为胰岛素瘤定性诊断的主要依据。可联合多种方法进行术前定位,IOUS联合扪诊是简单有效的定位诊断方法。肿瘤的局部剜除术是多数胰岛素瘤的最主要的手术治疗方式。     

脾脏硬化性血管瘤样结节性转化2例报告及文献复习

目的探讨脾脏硬化性血管瘤样结节性转化(SANT)的临床、病理、诊断与治疗。方法对2例SANT的临床、病理特征及免疫组化表达及术后随访情况进行分析并复习文献。结果显微镜下见肿物呈多个血管瘤样肉芽肿性结节,结节间为致密或黏液样变的纤维结缔组织,结节中瘤细胞呈卵圆形、短梭形,胞质丰富、可见分枝状及裂隙样不规则毛细血管,间质多量浆细胞、淋巴细胞浸润及红细胞外渗。细胞形态温和,无异型性,核分裂很少见。免疫表型复杂,无特征性表现。2例均行脾切除术治疗。术后随访6个月—1年余均无复发与转移。结论 SANT是一种罕见的具有特征性病理改变的良性增生性病变,临床上易与脾脏恶性肿瘤混淆,病理上易与炎性假瘤、错钩瘤等混淆,脾切除术是有效的治疗方法,预后良好。     

Spontaneous common iliac arteries rupture in Ehlers-Danlos syndrome type IV: report of two cases and review of the literature

Two patients with previously undiagnosed Ehlers-Danlos syndrome type IV (EDS IV) presented acutely with clinical features suggestive of hypovolemic shock. Emergency laparotomies in both of them revealed spontaneous rupture of the common iliac arteries. The clinical features, operative findings, surgical approach, outcome and implications are discussed.     

妊娠合并库欣综合征二例报告并文献复习

目的探讨罕见的妊娠合并库欣综合征病例的病因、临床表现、诊断和治疗。 方法回顾性分析2例我院收治的妊娠合并库欣综合征病例的临床资料，复习相关文献并予以讨论。例1：患者29岁，因"妊娠25周，四肢皮肤瘀点、瘀斑2个月，左小腿外伤半天"入住内分泌科。腹部超声检查发现左侧肾上腺区35 mm×29 mm低回声肿块。进一步完善各项检查后患者诊断为妊娠合并库欣综合征，并存在严重精神障碍。患者及家属要求手术治疗后终止妊娠。纠正低钾血症后转入泌尿外科行腹腔镜下左侧肾上腺肿瘤切除术，术中保留部分正常腺体。例2：患者28岁，因"妊娠22周，发现血糖升高1个月"入住我院内分泌科。腹部MRI检查发现左侧肾上腺区45 mm×59 mm占位。经进一步检查患者诊断为妊娠合并库欣综合征，并存在肝功能异常，考虑与患者皮质醇异常增高相关。患者及家属要求手术治疗后终止妊娠，遂转入泌尿外科行腹腔镜下左侧肾上腺肿瘤切除术。 结果2例手术均顺利完成。2例术后病理回报均为肾上腺皮质腺瘤。例1术后监测皮质醇水平低于正常，予小剂量糖皮质激素补充治疗。2例患者均术后2周引产终止妊娠。例1术后随访12个月，该患者术后小剂量糖皮质激素补充3个月后检查皮质醇恢复正常水平予停药，其后随访皮质醇均正常；患者精神障碍症状经过药物对症治疗后逐渐好转并恢复正常。例2术后已随访6个月，皮质醇及转氨酶术后均恢复正常。2例患者电解质及其他相关激素等随访检查均正常。 结论妊娠合并库欣综合征临床罕见，对孕妇及胎儿危害较大，需及时诊断。治疗时应综合评估孕妇及胎儿情况，选择合适的个体化治疗方案。     

Peripheral nerve blocks in patients with Ehlers-Danlos syndrome,hypermobility type: a report of 2 cases

Ehlers-Danlos syndrome is an inherited disorder of collagen production that results in multiorgan dysfunction. Patients with hypermobility type display skin hyperextensibility and joint laxity, which can result in chronic joint instability, dislocation, peripheral neuropathy, and severe musculoskeletal pain. A bleeding diathesis can be found in all subtypes of varying severity despite a normal coagulation profile. There have also been reports of resistance to local anesthetics in these patients. Several sources advise against the use of regional anesthesia in these patients citing the 2 previous features. There have been reports of successful neuraxial anesthesia, but few concerning peripheral nerve blocks, none of which describe nerves of the lower extremity. This report describes 2 cases of successful peripheral regional anesthesia in the lower extremity. In case 1, a 16-year-old adolescent girl with hypermobility type presented for osteochondral grafting of tibiotalar joint lesions. She underwent a popliteal sciatic (with continuous catheter) and femoral nerve block under ultrasound guidance. She proceeded to surgery and tolerated the procedure under regional block and intravenous sedation. She did not require any analgesics for the following 15 hours. In case 2, an 18-year-old woman with hypermobility type presented for medial patellofemoral ligament reconstruction for chronic patella instability. She underwent a saphenous nerve block above the knee with analgesia in the distribution of the saphenous nerve lasting for approximately 18 hours. There were no complications in either case. Prohibitions against peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type, appear unwarranted.     

Visceral aneurysms in Ehlers-Danlos syndrome: case report and review of the literature

A patient with Ehlers-Danlos syndrome type IV had a celiac artery aneurysm. There are only nine previously published cases of visceral artery aneurysms in this condition, and surgical management was used in only four of them. This is, we believe, the first published report of a successfully treated celiac artery aneurysm in this condition in which the hazards of treatment and our rationale are explained. The literature of this rare problem is also reviewed.     

胡桃夹综合征2例报告并文献复习

目的 探讨胡桃夹综合征的诊断及治疗.方法 回顾性分析本院收治的2例胡桃夹综合征患者的临床资料,检索并复习国内外相关文献,2例患者均行腹腔镜下左肾静脉人造血管外支架置入固定术,术中将直径约1cm长约4～5cm的带外支撑环的e-PTFE人造血管固定于下腔静脉与肾门之间的左肾静脉外,抵抗肠系膜上动脉的压迫,减轻肾静脉受压.结果 2例患者手术顺利,分别于术后12d、13d肉眼血尿消失,术后1个月复查尿常规均提示:潜血(-),尿蛋白(-),术前伴有精索静脉曲张者,术后1个月复查症状明显减轻,随访6个月未复发.结论 尿红细胞形态分析及计数、膀胱镜检查、彩超及CTA对于胡桃夹综合征诊断有重要价值,腹腔镜下左肾静脉血管外支架置入固定术治疗胡桃夹综合征疗效满意、并发症少、恢复快.     

Meningioangiomatosis associated with neurofibromatosis: report of 2 cases in a single family and review of the literature

BACKGROUND: Meningioangiomatosis (MA) is a rare benign disorder. It may occur sporadically or in association with neurofibromatosis (NF). The sporadic type typically presents with seizures, whereas that associated with NF is often asymptomatic. Of the 100 cases reported, only 14 are associated with NF. We now report 2 additional cases of MA associated with neurofibromatosis 2 (NF2) in a single family, with one occurring in the cerebellum. The etiology, pathology, and imaging features of MA are presented. CASE DESCRIPTION: A 38-year-old woman (patient 1) presented with a 4-month history of ataxia. She had been diagnosed previously with NF2. Magnetic resonance imaging (MRI) scans of the brain revealed bilateral acoustic neuromas and multiple calcified intracranial lesions. Her 13-year-old daughter (patient 2) presented with complex partial seizures. MRI scans of the brain revealed bilateral acoustic neuromas and a right parietal mass. Patient 1 underwent a suboccipital craniotomy to resect the right-sided acoustic neuroma. A small portion of normal-appearing cerebellar cortex was resected to avoid undue retraction. Histopathologic examination showed the presence of a lesion consistent with MA. Patient 2 underwent a right temporal-parietal craniotomy to remove the enhancing epileptogenic right posterior temporoparietal lesion. Histopathologic analysis showed a lesion consistent with meningioma and MA. CONCLUSIONS: MA has been reported infrequently in association with NF2. We now report 2 cases of MA associated with NF2 in one family, and we add the cerebellum to possible locations of occurrence. MA should be considered in the differential diagnosis of cortical lesions, particularly in patients with NF2.