血管网状细胞瘤一家系五例报告

江西省峡江县一廖姓家族两代 2 0人中 ,近 3年发现 5例患颅内血管网状细胞瘤 ,均经手术切除 ,病理证实 ,现报道如下。例 1,先征者 ,女 ,4 1岁。头痛 3年 ,近 1个月加重 ,伴有呕吐。出现眼球水平震颤和视乳头水肿。未发现视网膜血管瘤 ,皮肤未见斑痣 ,肝、肾功能未见异常。头颅ＣＴ示双侧小脑半球囊性病灶 ,囊内结节瘤影 (图 1)。于 1999年 12月手术 ,术中见左侧小脑半球黄色囊液 2 0ｍｌ,瘤结节 1 5ｃｍ×1ｃｍ× 1ｃｍ大小 ;右侧小脑半球囊液 10ｍｌ,瘤结节 1ｃｍ× 1ｃｍ× 1ｃｍ大小 ,顺利切除。两侧组织病理报告均为血管网状细胞瘤 (图 …     

家族性Fahr病一家系报告

临床资料：先证者．女性，69岁，既往健康，近2年来自觉走路不稳，反应略差。查体：意识清楚，语言流利，心肺腹检查未见异常。闭目站立征( )，双侧指鼻试验不准，双侧Babinski征(-)。实验室检查：血清Ca^2 2．50mmoL／L,P1．3mmol／L,FT3 4．6pmol／L．13.2pmol/L，TSH 6．0mmol/L。脑电图检查未见异常。头部CT检查：(1)双侧基     

两家系家族性颅内血管网状细胞瘤的临床特征及诊疗分析

目的 分析2个家系5名家族性血管网状细胞瘤患者的临床表现及诊断治疗方法.方法 湖北省襄阳市中心医院肿瘤科自2005年9月至2011年5月共收治2个家系共5名家族性血管网状细胞瘤患者,回顾性分析患者的临床资料、影像学特征、诊断与治疗方法. 结果 头颅MRI检查显示家系1中3例患者有2例为囊实性肿瘤,1例为实性肿瘤;家系2中2例患者均为囊实性肿瘤.5例患者均存在突变,均可诊断为Von Hippel-Lindau(VHL)病.所有患者均未合并肝脏等其他部位的病变.镜下全切或近全切肿瘤后均行定期随访1年,无复发、无死亡病例. 结论 头颅磁共振检查仍是目前家族性血管网状细胞瘤最主要的诊断及随访方法,手术仍是最主要的治疗手段.     

家族性震颤一家系临床调查分析

家族性震颤(Household Tremor HT)又称遗传性震颤，属原发性震颤(Essential Tremor ET)，病情进展缓慢，为中枢性良性震颤。本病是一种少见的常染色体显性遗传性疾病，临床报道不多。常被误诊为帕金森病(Parkinson PD)、帕金森综合征(Parkinsonism PT)、肝豆状核变性、小脑疾病、甲状腺机能亢进及其它神经系统疾病等。笔者在临床工作中发现一家系五代9例HT患者，现报告分析如下。     

家族性同一部位血管母细胞瘤的诊断治疗(附两个家系报告)

目的 探讨家族性同一部位血管母细胞瘤(HB)的诊断和治疗.方法 回顾分析两个家系2例小脑HB、3例脑干HB的临床资料和手术疗效,结合文献进行讨论.结果 两个家系均确诊为希佩尔-林道病(VHL).5例肿瘤全部切除,随访6-48个月,5例KPS评分均≥90分.结论 HB诊断主要依靠MRI,基因检测对VHL病的诊断有重要价值.显微手术技巧可显著提高本病的疗效;术后控制正常灌注压突破综合征、及时发现和处理相关并发症对本病的预后有重要意义.

Abstract：

Objective To study the diagnosis and treatment of familical hemangioblastoma with the same parts of central nervous system.Methods The clinical presentation, surgical treatment and outcomes in two families of two cerebellar hemangioblastoma and three hemangioblastoma of brainstem were analyzed retrospectively and literature review was performed.Results Family A was suspected to be VHL, family B was confirmed to be VHL.Five tumors were removed completely.The KPS of all patients were more than 90 during follow - up period ( from 6 months to 48 months ).Conclusion MRI and DSA may be the most important methods for the diagnosis of HBs.Genetic testing bears great value in the diagnosis of VHL.Microsurgical technique play a key role in the curative effect of hemangioblastoma.NPPB could be controlled in the perioperative period and management of complications is important for prognosis.     

脑干血管网状细胞瘤

本文报告了８例经手术证实的脑干血管网状细胞瘤。结合临床及ＭＲ表现，将其分为延髓近端组和延髓远端组，文中较详细地分析了两组的症状、体征，并论述了手术要点；特别提出了大的血管网状细胞瘤术后发生应激性消化道出血的可能机理及防治措施。本组除１例术后死于胃穿孔，其余均获得理想的预后。     

家族性血管网织细胞瘤4例

1 临床资料 报告一个家族中的两代4例小脑血管网织细胞瘤并对其遗传方式及治疗予以讨论。 患者男性,31岁,因右眼视物不清伴间歇性头痛五月余入院。查体:神清,右视网膜有增粗血管,鼻侧部分视野缺损。左侧快速运动差,跟膝胫试验差,余未见异常。HGB:147g/L,RBC:4.15×10~(12)/L。内脏B超检查未见异常;CT:右侧小脑内有一约4.5cm×5cm囊性病变,增强后在其外侧缘见1cm×1cm圆形高密度阴影。术前诊断:Von-Hippel氏病。枕下正中入路手术,囊腔内切除约1cm×1cm瘤结节,病理为小脑血管网织细胞瘤。家族史:病人父亲(48岁)在某院因此病手术治疗;其大妹妹(21岁)在我院确诊此病,手术切除肿瘤,次年复发,再次手术切除;小妹妹(20岁)在我院因此病亦行手术治疗。     

伽玛刀结合穿刺及内放疗治疗血管网状细胞瘤(附24例报道)

目的探讨伽玛刀结合穿刺及内放疗治疗血管网状细胞瘤的可行性.方法自1999年6月至2004年12月采用伽玛刀结合穿刺及内放疗治疗血管网状细胞瘤患者24例.结果14例患者病灶明显缩小（＞80%）,症状基本消失,可正常生活;6例患者病灶有所缩小（＜50%）,症状较前改善;2例病人为术后残留,均经两次伽玛刀治疗,但肿瘤仍进行性增大,行第二次开颅手术;2例病人伽玛刀治疗后3～4年病情加重死亡.结论采用伽玛刀结合穿刺及内放疗综合治疗血管网状细胞瘤患者,大部分能取得满意疗效,为术后残留及不宜或拒绝手术的患者提供了一条治疗新途径.     

家族性Fahr病一家系报告

Fahr病又称为家族性特发性基底节钙化、特发性家族性脑血管病亚铁该沉着症,国内蒋雨平1983年首次报道,病因不详,为家族遗传性疾病,临床罕见.本科收治1例Fahr病,并通过家族调查,现报道如下: 例1 先证者:男性,56岁,工人,因"发现意识不清6h"就诊.该患者于入院前晚在工地宿舍火炕上睡觉,次日凌晨同事发现错迷不醒(与患者同住的另外2人也出现头痛伴呕心,程度较轻,醒后家中布满煤气味,炉中仍见炭火在燃烧),伴司尿失禁,送往本院就诊的过程中出现烦躁,四肢乱动,查头颅CT:发现双段基底节、丘脑、小脑半球对发对称性钙化,以"急性CO中毒?"收住院.     

Von Hippel-Lindau病相关性中枢神经系统血管母细胞瘤

目的探讨yon Hippel—Lindau病相关性中枢神经系统血管母细胞瘤的临床特点、治疗原则及预后。方法对2000年1月-2005年1月收治的18例von Hippel—Lindau病相关性中枢神经系统血管母细胞瘤患者的临床资料进行回顾分析，并与同期收治的散发性中枢神经系统血管母细胞瘤患者比较，对其中1例资料完整者的家系进行详细调查。结果18例患者平均年龄37．60岁，其中有明确家族遗传史者7例，伴肾囊肿10例，伴胰腺囊肿5例，伴视网膜血管瘤3例，伴肾癌1例，伴肾上腺嗜铬细胞瘤1例。与散发性中枢神经系统血管母细胞瘤相比，von Hippel—Lindau病相关性中枢神经系统血管母细胞瘤患者更容易出现多发性血管母细胞瘤，手术前平均外周血红蛋白水平多〉160g／L。18例中无一例手术死亡，手术后全部获得平均42个月的随访，Kamofsky预后评分〉80分者12例〈66．67％），死亡2例（分别死于脑干血管母细胞瘤复发和肾癌多发转移）。家系调查显示．家系成员发病以血管母细胞瘤多见（10／12），且2例为多发性血管母细胞瘤，遗传可能来自母系，外显率为12／31（38．71％）。结论对于多发性血管母细胞瘤或手术前平均外周血红蛋白水平〉160g／L的血管母细胞瘤患者应高度怀疑von Hippel-Lindau病，须施行严格的眼底镜检查或眼底荧光造影、腹部B超、CT检查，以排除von Hippel-Lindau病。一旦明确诊断则建议患者出院后定期进行上述检查，以便早期发现新的病灶，及时治疗。     

家族性与非家族性血管母细胞瘤的临床病理对比分析

目的探讨家族性血管母细胞瘤（ＨＢ）遗传学特征及其临床病理表现与非家族性ＨＢ有无差异。方法对５７例ＨＢ进行家系调查，长期随访及临床病理资料分析。结果本组１１例（１９．３％）为家族性发病，呈常染色体显性遗传。与非家族性ＨＢ比较，家族性ＨＢ术前病程短，肿瘤体积小，常呈多灶性，复发与再复发率高（Ｐ＜０．０５～０．０１）。性别比例、发病年龄、复发与再复发间隔时间及大体与组织学表现，两组间无显著性差异（Ｐ＞０．０５）。结论家族性与非家族性ＨＢ的主要差异为：术前病程、肿瘤体积、病灶多少及复发与再复发率的不同，对家族性病例术中必须注意全部切除所有病灶，并对其家庭成员进行系统检查。     

家族性中枢神经系统血管母细胞瘤VHL基因突变与临床预后分析

目的 探讨汉族人家族性中枢神经系统血管母细胞瘤（HB）的临床特点及家系表现和VHL基因突变的关系.方法 回顾性分析9个家族15例经手术和病理证实的HB患者进行临床分析.对长期随访的7个家族中的12例患者和15例相关家族成员抽取外周血进行VHL基因测序.对于测序阴性的患者,对其DNA进行三个外显子实时定量PCR测定.结果 本组15例HBs中,多发性肿瘤10例,共34个肿瘤.进行开颅和脊髓手术17次,共切除HB22个.基因测序发现在4种点突变.通过实时定量PCR发现2个家族外显子1大片段缺失.在未发病家族成员中检出携带者3例.随访期间发现2例复发和3例新生的HB,主要集中在移码突变和拼接错误的家族中.通过再次手术和对脑干HB进行γ刀治疗,效果较好.结论 VHL相关的HB易复发,并不断有新生HB出现.基因测序和实时定量PCR联合应用可以提高VHL基因突变的检出率.基因突变分析可有助于未发病基因突变携带者确诊,基因突变的分型有助于对患者的预后进行判断.     

Spinal Cord Hemangioblastoma : Diagnosis and Clinical Outcome after Surgical Treatment

Objective

Spinal cord hemangioblastoma is an uncommon vascular neoplasm with a benign nature and is associated with von Hippel-Lindau (VHL) disease in 20-30% of patients. Total removal of these tumors without significant neurological deficit remains a great challenge. The purpose of this study was to investigate the efficacy of VHL mutation analysis and to evaluate surgical outcome of patients with spinal cord hemangioblastomas.

Methods

This study included nine patients treated for spinal cord hemangioblastomas at our institute between December 1994 and March 2006. There were four male and five female patients. Mean age was 37.8 years. The mean follow-up period was 22.4 months. Magnetic resonance imaging (MRI) of the complete neuraxis was done in all cases and VHL mutation analysis was performed in three cases for a definite diagnosis.

Results

Six patients had intramedullary tumor, and the remaining patients had intradural extramedullary lesions. Five patients were associated with VHL disease. The von Hippel-Lindau mutation analysis was done in three patients and two of them showed VHL gene abnormality. Tumors were located in the cervical cord in five cases and in the thoracic cord in four cases. All patients underwent surgical intervention, and total removal was achieved in six cases. All patients showed improvement or, at least, clinically stationary state. Surgical complications did not develop in any cases.

Conclusion

Spinal hemangioblastoma in this series has been safely and effectively removed via a posterior approach. Postoperatively, clinical outcome was excellent in the majority of cases. The VHL mutation analysis was useful in patients with family history and in those with multiple hemangioblastomas.     

Pituitary stalk hemangioblastoma: the fourth case report and review of the literature

Supratentorial hemangioblastomas (HBL) have been rarely described in the literature. Herein we report the fourth case of pituitary stalk HBL diagnosed concurrently with cerebellar HBLs in a 51-year-old woman with von Hippel-Lindau disease. Complete resection of the lesion was achieved using left frontopterional craniotomy and no recurrence was observed after 8 years of follow-up. The clinical presentation, radiological features, pathological findings, and the management of this particular case are discussed in the light of the available literature. To our knowledge, this case is the only pituitary stalk HBL with total resection, and a long follow-up fully documented.     

Meningeal Supratentorial Hemangioblastoma in a Patient with Von Hippel-Lindau Disease Mimicking Angioblastic Menigioma

Hemangioblastomas are sporadic tumors found in the cerebellum or spinal cord. Supratentorial hemangioblastomas are rare, and those with meningeal involvement are extremely rare and have been reported in only approximately 130 patients. Here, we report the case of a 51-year-old female patient with supratentorial meningeal hemangioblastoma detected 5 years after surgical resection of an infratentorial hemangioblastoma associated with von Hippel-Lindau disease. Patients with von Hippel-Lindau syndrome are at risk for developing multiple hemangioblastomas, with new tumor formation and growth and possible meningeal infiltration. Regular lifelong follow-up in at-risk patients is recommended and should include the differential diagnosis of dural-based tumors such as angioblastic meningioma and metastatic renal cell carcinoma.     

Von Hippel-Lindau病:三家系报告及文献综述

目的报告Von Hippel-Lindau病3家系临床特征并综述该病与神经系统相关病变的临床和基础研究进展。方法对中国人Von Hippel-Lindau病3家系进行流行病学调查并复习相关文献。结果3家系均符合常染色体显性遗传特征。结论Von Hippel-Lindau病是一种常染色体显性遗传性肿瘤综合征，可累及多个器官，随着医学影像学、基因检测和神经外科手术技术的发展。Von Hippel-Lindau病与神经系统相关病变的诊断与治疗取得了很大进步。Von Hippel-Lindau病家庭联盟的建立可能会为Von Hippel-Lindau病患者及其家庭的相互支持帮助提供有益的平台。     

Clinical and genetic study on a new Chinese family with benign familial infantile seizures

Three loci for benign familial infantile seizures (BFIS, traditionally named benign familial infantile convulsions) have been mapped to the chromosome regions of 19q12–13.1, 2q24, and 16p12-q12. We characterized the clinical features of a newly discovered Chinese family with BFIS and investigated whether it is linked to these loci. A four-generation Chinese family was investigated and nineteen family members were examined. Fourteen microsatellite markers covering the three BFIS loci on the chromosome regions of 19q12–13.1, 2q24, and 16p12-q12 were genotyped. Linkage analysis was performed. The main clinical features of our patients include onset of afebrile seizures between 3 and 10 months, normal psychomotor development, normal interictal electroencephalogram (EEG), and autosomal dominant inheritance. Magnetic resonance imaging (MRI) changes were found in the proband. Two-point LOD scores are <−2.0 at the recombination rate of 0.0 for all the markers on the 2q24 region. Multipoint LOD scores are <−3.0 for the regions of 19q12–13.1 and 16p12–q12. Linkage analysis showed no evidence that the disease gene of this BFIS family is linked to the chromosome regions previously identified as the critical regions of the disease. Another chromosome region harboring the disease gene may exist in the new Chinese family.     

Medullary hemangioblastoma: 34 patients at a single institution

This study aimed to elucidate the surgical experience of medullary hemangioblastoma (MH) at a single institution. We reviewed 34 consecutive patients with MH operated on between January 2005 and June 2012 in the neurosurgery department of the Beijing Tiantan Hospital. There were 14 men and 20 women. The patients were aged from 17 to 60 years with an average age of 38 years. Tumors were cystic in 12 patients (Type A), and solid in 22 patients. The solid tumors were of a small size in six patients (<3 cm, Type B), large in 12 (3.1–5 cm, Type C), and giant in four (>5 cm, Type D). Radical tumor removal was achieved in all patients. Tracheotomy was performed in 10 patients (one Type B patient, seven Type C, two Type D) postoperatively. Pneumonia secondary to lower cranial nerve palsy occurred in six patients (all Type C). Complications including intracranial infection (n = 5), gastrointestinal bleeding (n = 2), and intracranial hematoma (n = 1) also occurred in this group. Follow-up (range, 2–82 months; mean, 30 months) was available in all patients. At follow-up, 29 patients (85.3%) had a good outcome. Twenty-eight of these (82.4%) had an excellent outcome postoperatively (Karnofsky Performance Status ⩾80). Although transient surgical complications are possible especially for large solid tumors, total surgical resection can be performed with favorable long-term outcomes with meticulous microsurgical technique and understanding of the vascular pattern of the tumor. Postoperative management of MH is as important as the operation.