神经纤维瘤病侵犯头颅及脊柱的MRI表现

神经纤维瘤病包括两种不同类型的遗传异常,是神经皮肤综合征最常见的原因,常表现为多器官受累,但头颅脊柱受累最常见,神经纤维瘤病Ⅰ型(NF-1)最常见,发病率为1/4000,50％的NF-1为基因突变造成,余为常染色体显性遗传,NF-1基因位于染色体17上,临床上有许多表现,其中有皮肤咖啡牛奶斑、神经纤维瘤、丛状神经纤维瘤病、腋窝及腹股沟雀斑、视神经胶质瘤、Lish结     

Ⅰ和Ⅱ型神经纤维瘤病:脑MRI表现

近年来通过基因链研究认识到Ⅰ型和Ⅱ型神经纤维瘤病(NF-1和NF-2)为单独疾病。作者回顾评价了53例NF-1和11例NF-2病人颅脑MRI表现。结果NF-1病人MRI发现视神经胶质瘤(19/53),“畸胎瘤”(32/53),脑实质肿瘤(8/53),内     

Ⅰ型神经纤维瘤病并发左颈横动脉瘤出血栓塞治疗一例

神经纤维瘤病Ⅰ型(neurofibromatosis typeⅠ,NFⅠ)是神经纤维瘤病(又称von Recklinghausens病)中最常见的一种类型,约占90%[1],它是一种以皮肤、骨骼、肌肉等异常为特     

神经纤维瘤病Ⅰ型的头颈部CT和MRI表现

目的 探讨神经纤维瘤病Ⅰ型(NF-1)的CT和MRI表现.资料与方法 回顾性分析33例经病理证实的NF-1患者的临床资料及头颈部CT、MRI特征.结果 单侧听神经瘤2例;单侧视神经瘤1例及单发凸面脑膜瘤1例;视神经增粗4例;眼球体积增大伴外凸(青光眼)6例;脉络丛粗大钙化3例;面颊部肿块2例;颌面骨及周围改变6例;蝶翼缺损及颞叶疝21例,其他部位颅骨缺损8例;颈深部肿块2例.结论 CT与MRI相结合能全面显示NF-1的头颈部病变,对NF-1具有重要诊断价值.     

丛状神经纤维瘤生长方式的MRI分析

神经纤维瘤病是神经皮肤综合征中最常见的一种疾病,根据基因诊断可分为2个亚型,即神经纤维瘤病I型(neurofibromatosis type 1,NFl)和神经纤维瘤病Ⅱ型(neurofibromatosis type 2,NF2)[1-2].     

神经纤维瘤病Ⅰ型的MRI影像学表现

目的分析神经纤维瘤病I型(NF1)的MRI影像学表现,提高对本病的认识。方法回顾性分析26例确诊神经纤维瘤病I型患者的临床及影像学资料,26例患者均接受MRI的检查,3例患者同时接受了CT的检查,1例患者同时接受了X线检查。结果 26例神经纤维瘤病I型(NF1)中有16例颅内中枢神经系统肿瘤,5例椎管内肿瘤,1例腹腔及腹膜后内肿瘤,1例臀部丛状神经纤维瘤,1例膝关节及2例小腿肿瘤,20例合并有皮肤的咖啡牛乳色斑,12例有家族史。结论神经纤维瘤病I型具有典型MRI表现,与临床表现结合可以确诊该病。     

型神经纤维瘤病的颅内钙化

神经纤维瘤病是由神经嵴细胞发育不良引起的广泛遗传性疾病。至少有两型各具特征的临床和遗传表现的神经纤维瘤病。Ⅰ型为常见的Von Reclinghausen′s神经纤维瘤病,它可能为严重的常染色体显性遗传性疾病。Ⅱ型为少见的中枢型,有多发颅内和椎管肿瘤,包括颅、脊神经瘤、脑膜瘤     

神经纤维瘤病的影像诊断1O例分析

回顾性分析10例神经纤维瘤病的影像学表现,其中男4例,女6例,年龄13～53岁,5例有家族史。NF-Ⅰ型8例,同时具有Ⅰ型和Ⅱ型特点的2例。临床上除2例分别有听力和视力障碍（听神经瘤、视神经肿瘤）外,均无明显症状。全部病例符合神经纤维瘤病的临床诊断标准。影像学检查包括X线平片、CT平扫、ERI（7例行增强扫描）。     

神经纤维瘤病的CT和MRI表现

目的:探讨神经纤维瘤病的CT和MRI影像表现,并就二者的优劣进行比较.方法:分析17例神经纤维瘤病的临床特点和CT、MRI表现,并就NFⅠ型与其它神经皮肤综合症、NFⅡ型与常见发生于桥小脑角区的肿瘤进行了鉴别.结果:17例神经纤维瘤病中,NFⅠ型6例,NFⅡ型11例.CT显示NF不及MRI,后者能够全面准确地显示病灶分布,病变大小、形态和信号特征以及与相邻组织结构的关系,特别是MR增强扫描能够显现伴发的颅内小病灶.结论:MRI是目前诊断神经纤维瘤病的最佳影像学检查方法,优于CT.     

脑膜血管癌病:临床、放射及组织病理学联系

脑膜血管瘤病(MA)是一种罕见的良性软脑膜错构性病变。被认为是神经纤维瘤病的一种顿挫型,作者报道4例,男3例,女1例,年龄2.5～21岁。全部均有癫痫而无神经纤维瘤病的特征或家族史。3例作了CT检查,其中1例还作了血管造影检查,1例作了MRI。病变在右顶叶1例,左颞叶1例,右颞叶2例。平扫CT示病灶呈高密度,大部分为线状或颗粒状钙化构成,并有轻～中     

Endotracheal neurofibroma in neurofibromatosis type 1: an unusual manifestation

Tracheal involvement is an extremely rare manifestation in patients with neurofibromatosis type 1 (NF-1). We present a 33-year-old women with NF-1 suffering from progressive dyspnea. Multislice spiral CT revealed a neurofibroma located within the trachea with intratracheal extension. To our knowledge, this is the first report of an intratracheal neurofibroma which has been documented by CT. This indicates that multislice spiral CT allows accurate demonstration of localization and extent of this rare manifestation of neurofibromas.     

Sudden death due to rupture of the right internal carotid artery in neurofibromatosis type 1: A case report

Vascular involvement is a well-recognized manifestation of neurofibromatosis type 1 (NF1) which has the potential to be fatal when disrupted. We here present a case of sudden death due to the fatal arterial rupture resulted from infiltration of the neurofibromas. A 42-year-old man who suffered from NF1 presented a 1-h history of sudden onset of pain in his right cervical region. His condition worsened and became unconscious on his way to the emergency room. Despite resuscitation efforts, he died 30 min later without regaining consciousness. Autopsy examination showed that a neurofibroma located around the right internal carotid artery, confirmed immunohistochemically with S-100, vimentin and CD34. Furthermore, proliferation of spindle cells positive for S-100 was seen in the wall of right internal carotid artery, which was disrupted and resulted in a hemorrhage. These findings suggest that the artery was disrupted by neurofibromas in the vascular wall, which led to fragility of the vessel. On the basis of these findings, we concluded that the cause of death was asphyxia resulting from airway obstruction compressed by the hematoma due to the arterial rupture. As the locality of the neurofibroma and hemorrhage were closed to the carotid baroreflex, we considered another possible mechanism of his sudden death, which could be cardiac inhibition induced by vagal stimulation. We hope this case will increase recognition of NF-1 vasculopathy when encountering any sudden death in NF1 patients.     

Neurofibroma with increased uptake of [F-18]-fluoro-2 deoxy-<Emphasis Type="SmallCaps">d</Emphasis>-glucose interpreted as a metastatic lesion

We report a patient with a solitary spinal neurofibroma in the posterior mediastinum interpreted as a metastatic tumor. A 46-year-old female with rectal cancer who had undergone operation and subsequent adjuvant chemotherapy two years previously was referred to our department for a follow-up whole body FDG-PET study. PET scan revealed a mass with increased uptake of FDG (SUV=4.6) in the posterior mediastinum. MRI examination showed a dumbbell neurogenic tumor originating from the intercostal nerve at T6 level. A subsequent CT-guided biopsy demonstrated a neurofibroma.     

罕见部位神经源性肿瘤的临床及影像学诊断(附8例报告)

目的 探讨罕见部位神经源性肿瘤的影像表现，并提高术前诊断准确性。方法 本组8例患者，CT检查4例，胃肠道造影检查3例，胸部X线、B超、MRI和DSA检查各1例。所有病例均经病理证实为神经源性肿瘤。结果 影像检查并经病理证实，8例患者中，左前上纵隔恶性神经鞘瘤1例，左肺下叶支气管壁神经鞘瘤1例，回盲部肠系膜巨大神经鞘瘤1例，胃部神经源性肿瘤3例(腔内2例，腔外1例)，十二指肠降部腔外神经纤维瘤1例，以及盆腔右侧骶骨恶性孤立性神经纤维瘤l例。结论罕见部位神经源性肿瘤缺乏影像学特征，术前影像学检查大多能够做出正确的定位诊断，但与其相应部位的其他恶性肿瘤不易鉴别，确诊有赖于病理组织学检验。     

纵隔型肺癌的CT及MR表现分析

目的 探讨纵隔型肺癌CT及MRI诊断能力.方法 回顾分析15例经纤支镜、穿刺活检及手术病理证实为纵隔型肺癌的CT及MRI影像资料,15例全部行CT平扫,其中11例增强扫描,3例行MR平扫与增强扫描.分析CT及MRI图像上肿块的位置、大小、形态、边缘及其与纵隔和肺的关系.结果 15例纵隔型肺癌为单发肿块,5例小细胞型肺癌,8例鳞癌、腺癌及腺鳞癌各1例.肿块均位于纵隔胸膜下,与纵隔呈宽基底相贴,大多呈类圆形或椭圆形.边缘分叶12例,毛刺9例.肿块位于上纵隔8例,中纵隔5例,下纵隔2例.其中前中纵隔区12例,后纵隔3例.肿块与肿大淋巴结融合7例.癌肿邻近相应支气管变窄或闭塞9例.4例有胸廓骨转移性骨质破坏.结论 纵隔型肺癌易误诊,仔细分析CT及MRI表现,结合临床可作出较准确的诊断.     

Neurofibroma with increased uptake of [F-18]-fluoro-2 deoxy-<Emphasis Type="SmallCaps">d</Emphasis>-glucose interpreted as a metastatic lesion

We report a patient with a solitary spinal neurofibroma in the posterior mediastinum interpreted as a metastatic tumor. A 46-year-old female with rectal cancer who had undergone operation and subsequent adjuvant chemotherapy two years previously was referred to our department for a follow-up whole body FDG-PET study. PET scan revealed a mass with increased uptake of FDG (SUV = 4.6) in the posterior mediastinum. MRI examination showed a dumbbell neurogenic tumor originating from the intercostal nerve at T6 level. A subsequent CT-guided biopsy demonstrated a neurofibroma.     

Intraorbital plexiform neurofibroma in an NF-1-negative patient

A 52-year-old patient presented with an orbital swelling and exophthalmos that enlarged over a period of about 40 years. The clinical examination showed massive exophthalmos and ptosis of the right eye without diplopia. The radiological investigation (MRI, CT and ultrasound) showed an unclear intraorbital mass with erosion of the orbital floor, infraorbital rim and orbital roof. The lesion was diagnosed histologically as a plexiform neurofibroma. The patient did not present any features of neurofibromatosis type 1 (NF-1) and molecular genetic analysis was unable to uncover a pathogenic sequence alteration in the NF-1 gene. Owing to the absence of clinical and ophthalmologic symptoms and the improbability of complete removal, the patient refused surgical intervention.     

神经纤维瘤病中枢神经系统的MRI表现

目的 探讨神经纤维瘤病(NF)的中枢神经系统(CNS)MR表现。方法 回顾性分析10例神经纤维瘤病患的临床资料并对其中枢神经系统MR表现进行分析，所有病例均行常规MR平扫及增强扫描。结果 10例病例中，NF—1型6例，表现为脑内胶质瘤、椎管内神经纤维瘤，4例合并皮肤损害，其中一例有家族史，NF—2型4例，表现为双侧听神经瘤、多发脑膜瘤或神经纤维瘤，皮肤损害少见。所有病例中增强扫描均发现平扫未发现之病灶。结论 MR能很好显示病变的大小、形态及信号特点，对检出神经纤维瘤病中枢神经系统的损害方面有优势，增强扫描可帮助发现平扫未见病灶。     

MR imaging of the corpus callosum in pediatric patients with neurofibromatosis type 1

BACKGROUND AND PURPOSE: Many pediatric patients with neurofibromatosis type 1 (NF-1) have an apparent increased thickness of the corpus callosum (CC) on sagittal T1-weighted images compared with patients not affected by NF-1. In this study, we compared the surface area of the CC in children with NF-1 with that of healthy pediatric control subjects to determine if this was another common intracranial manifestation of NF-1. METHODS: Midsagittal T1-weighted MR images of 43 consecutive children with NF-1 and 43 age- and gender-matched healthy control subjects were reviewed retrospectively. The surface area of the CC and the midsagittal intracranial skull surface (MISS) area were measured five times each on all midsagittal images. A mean CC to mean midline intracranial surface area ratio (CC/MISS) was calculated for each. RESULTS: There is a statistically significant increase in the mean CC surface area in pediatric patients with NF-1 (680 mm2 +/- 98, range 509-974 mm2) compared with control subjects (573 mm2 +/- 83, range 404-797 mm2). The mean MISS is significantly increased in patients with NF-1 (16568 mm2 +/- 1161, range 14107-19394 mm2 vs 15402 mm2 +/- 1133, range 12951-17905 mm2 for control subjects). CC/MISS was also significantly increased in the patients with NF-1 relative to the control subjects (.0410 +/- .0043, range .0330-.0530 vs .0372 +/- .0043, range .0270-.0470 for control subjects). CONCLUSION: A larger midsagittal surface area of the CC is another intracranial manifestation of NF-1 that can be demonstrated by sagittal MR imaging. The etiology is unclear, but could be related to abnormal neurofibromin and Ras protein activity. Potential clinical relevance is discussed herein.     

不典型神经鞘瘤及神经纤维瘤CT、MRI诊断

目的分析不典型神经鞘瘤和神经纤维瘤的CT和MRI表现,提高其诊断准确率. 资料与方法回顾性分析30例经手术病理证实的不典型神经鞘瘤及神经纤维瘤CT和MRI资料. 结果神经鞘瘤18例、神经纤维瘤12例.少见部位、肿瘤巨大、完全囊变、厚壁囊变、瘤周明显水肿及多发小结节影融合为其主要不典型表现.30例中有20例患者术前误诊（66.7%）. 结论不典型神经鞘瘤和神经纤维瘤定性诊断较困难,加强影像学表现与临床综合分析,有助于提高诊断符合率,MRI在定性诊断方面优于CT.