神经纤维瘤病I型的颅脑CT及MRI评价

目的：认识神经纤维瘤病I型的颅脑影像学表现，评价MRI和CT在诊断方面的价值。材料和方法：回顾性分析11例经临床确诊神经纤维瘤病患者的CT和MRI图像，同时查阅近年国内外相关研究资料，提出神经纤维瘤病I型的主要颅脑影像学表现及有关病理解释。结果：CT、MRI显示眼眶周围丛状神经纤维瘤6例，其中5例伴蝶骨翼发育不良，1例伴视神经增粗。11例中MRI显示苍白球T2WI高信号8例，其中4例表现为TlWI等信号，2例T1WI高信号，2例T1WI低信号，所有病例增强扫描均无强化。而CT扫描仪2例显示低密度。此外，MRI显示丘脑、小脑半球、脑干T2WI高信号各2例，CT无异常。结论：神经纤维瘤病I型有明显特征性颅脑改变，在显示基底节及脑白质病变方面MRI比CT更具优越性。     

神经纤维瘤病Ⅱ型的MRI表现三例

神纤维瘤病Ⅱ型是神经纤维瘤病中的罕见类型 ,笔者遇到 3例 ,现报告如下并结合文献进行复习。例 1　女 ,18岁。左侧肢体乏力伴行走不稳 2年余 ,无恶心、呕吐及四肢抽搐 ,数月后发现左耳听力下降 ,并缓慢进行性加重。查体无特殊。曾行左前臂神经纤维瘤手术治疗。ＭＲＩ表现 :双侧桥小脑角见稍长Ｔ1、稍长Ｔ2 信号肿块 ,双侧听神经明显增粗 ;Ｃ3 ～Ｃ5平面左侧椎管内外见“哑铃”状稍长Ｔ1、稍长Ｔ2 异常信号 ,增强后上述病灶明显强化 ,右侧颈部下斜肌处亦见梭形强化灶 (图 1)。手术所见 :双侧桥小脑角肿瘤 ,质中 ,灰白色 ,与听、面神经粘连 ;…     

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。     

Ⅱ型神经纤维瘤病的头部MRI表现

目的：强调Ⅱ型神经纤维瘤病头部ＭＲＩ的诊断和增强扫描价值。材料与方法：搜集我院行ＭＲ检查并经手术证实符合神经纤维瘤病诊断标准者３例，分析其头部ＭＲＩ表现。结果：３例中２例为双侧听神经鞘瘤，其中１例伴有双侧三叉神经鞘瘤及脑膜瘤，另１例为单侧听神经鞘瘤伴有多发小的其他颅神经鞘瘤和脑膜瘤。结论：Ⅱ型神经纤维瘤病最常表现为三叉神经和听神经肿物，ＭＲ增强扫描对发现小的病变最为敏感。     

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.     

神经纤维瘤病多灶性分布的临床影像学表现分析

目的 回顾性分析神经纤维瘤病(NF)多灶性分布的影像学表现,以期提高对该病的诊断水平.方法 对11例经病理证实的NF患者的病变部位及分布的影像学资料进行回顾性分析.结果 本组11例中,NFⅠ型7例,其中发生于脊柱及脊柱旁病变4例,胸壁伴脊柱病变1例,单纯胸壁及腹部病变各1例.NFⅡ型4例,均为女性,单侧听神经瘤伴椎管内病变1例,双侧听神经瘤3例(其中1例伴有多发脑膜瘤,1例伴有椎管内病变).结论 NF病变呈多灶性分布,NFⅠ型病变以皮肤色斑、脊柱及脊柱旁病变为多见,胸壁及腹部也可发生.NFⅡ型病变以双侧听神经纤维瘤为特点,多伴有脑膜瘤及椎管内病变.     

神经纤维瘤病MR影像表现

目的　分析并探讨神经纤维瘤病的分型及各型的MR影像学表现。方法　回顾性地分析 8例神经纤维瘤病患者的临床及影像学资料 ,所有病例均常规行MRI及钆剂强化扫描 ,归纳所有患者的临床表现及影像学特点。结果　根据NIH的诊断标准 ,8例中 ,4例属NF -1型 ,均在脑内胶质瘤、椎管内神经纤维瘤或脑内对称部位的异常信号基础上 ,合并有皮肤的咖啡牛乳色斑或多发神经纤维瘤 ,其中 1例有家族史 ;4例属NF -2型 ,均患双侧听神经瘤 ,2例合并髓内星型细胞瘤。结论　NF -1型在所有神经纤维瘤病中占大多数 ,且多合并有皮肤损害 ;NF -2型较少见 ,典型表现为双侧听神经瘤 ,皮损少见。MRI及强化扫描对检出神经纤维瘤病中枢神经系统的损害方面有优势     

弥漫性丛状神经纤维瘤病1例

<正>患儿女,8岁。1年前出现左下肢跛行呈进行性加重而来我院就诊。体检:患儿腹壁、胸壁、右上臂、后背、左臀部及左下肢多发散在大小不等咖啡牛奶斑,以左臀部为甚(图1),色斑沉着随年龄增长渐加重;近1年出现左下肢渐进性跛行,且左侧大腿较对侧稍增粗。实验室检查及胸部平片均未见明显异常,患儿家属否认家族中类似病例及相关遗传病史。骨盆平片:骨盆右倾,左股骨粗隆较右侧稍增粗,股骨颈     

Cerebral ganglioglioma and neurofibromatosis type I

Summary We report the occurrence of a left frontal lobe ganglioglioma in a patient with neurofibromatosis type I (von Recklinghausen's disease) and conclude that the occurrence of a cerebral ganglioglioma in a patient with neurofibromatosis must probably be considered coincidental.     

Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety

In neurofibromatosis type 1 (NF1) spinal tumours cause neurological symptoms in about 2 % of patients. Among over 1400 patients with NF1 we saw symptomatic spinal tumours in 23 (1.6 %). MRI of the entire spinal canal was obtained in 54 patients aged 5–56 years with NF1. The number, site, morphology and signal characteristics of the spinal tumours were recorded and analysed. There were 24 patients with symptoms such as sensory impairment or paralysis; 30 patients had no neurological deficits. Of the 24 symptomatic patients, 23 (96 %) had spinal tumours, while we saw spinal tumours in 12 (40 %) of the 30 patients without neurological deficits. No spinal segment was preferred in symptomatic or asymptomatic patients. Most intraspinal extramedullary tumours were primarily extradural and intraforaminal. MRI showed intramedullary tumours in 3 patients (6 %), intraspinal extramedullary tumours in 18 (33 %) and intraforaminal tumours in 31 (57 %). Only neurological deficits in patients with NF1 should prompt further diagnostic clarification. In patients with neurological symptoms there may be a multiplicity of masses in the spinal canal, which can lead to difficulties in attaching symptoms to a certain tumour. In patients who do not satisfy the NIH criteria, it can be a helpful observation that spinal tumours in NF1 are primarily intraforaminal, extending into the spinal canal, while in NF2 they are mostly intraspinal intradural tumours. Received: 7 April 1998 Accepted: 15 December 1998     

Pediatric brain MRI in neurofibromatosis type I

Neurofibromatosis (NF) is the most common of the phakomatoses, with a prevalence of 1 in 3–4,000. Many organ systems can be affected. In addition to multiple peripheral neurofibromas, NF I predisposed to CNS tumors including optic glioma, astrocytoma and plexiform neurofibroma. The purpose of this pictorial review is to illustrate characteristic brain MR imaging lesions in children with NF I and to give some recommendations about diagnostic imaging procedures in children suffering from NF I. Typical findings in brain MRI are hyperintense lesion on T2-weighted images, so-called unknown bright objects, which may be useful as an additional imaging criterion for NF I. Contrast administration is necessary in MR studies to maximize tumor detection and characterization, to add confidence to the diagnosis of benign probable myelin vacuolization, and to document stability of neoplasm on follow-up examinations. We recommend to perform serial MR imaging in children every 12 months. The frequency of follow-up in children with known brain tumors will vary with the tumor grade, biological activity and treatment.     

MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an incidence of 1:3000. Approximately 30% of NF1 patients develop plexiform neurofibromas (PNF) which often cause severe clinical deficits. We studied the growth patterns of 256 plexiform neurofibromas (PNF) by magnetic resonance imaging (MRI) and associated disfigurement and functional deficits to determine whether there are definable growth types of these tumors. Retrospectively, we evaluated MRI scans obtained during 1997 to 2003 of 256 plexiform neurofibromas from 202 patients with NF1. Clinical investigation was carried out at the same time as the MRI scans. We identified three growth patterns: superficial in 59, displacing in 76, and invasive growth in 121 tumors. The majority (52%) of invasive PNF were found in the face, head and neck area. While superficial PNF primarily caused aesthetic problems, displacing PNF led in most cases to aesthetic problems and pain, while invasive PNF led mainly to functional deficits and disfigurement. Our study demonstrates that PNF have different growth patterns that are associated with specific clinical features. Classification of PNF may open new opportunities in clinical management, especially regarding decisions and options associated with surgical intervention.     

CT detection of basal ganglion lesions in neurofibromatosis type 1: correlation with MRI

Summary Prospective study of CT and MRI in 41 consecutive children with suspected type 1 neurofibromatosis revealed basal ganglion lesions on T2-weighted spin echo images in 22 cases (54%) and on CT in only 7 of those (32%). T2-weighted spin-echo MRI also revealed multiple signal changes in the supra- and infratentorial white matter and brain stem that went completely unnoticed on CT.     

1H MR spectroscopy evidence for the varied nature of asymptomatic focal brain lesions in neurofibromatosis type 1

We present the MRI and ¹H MR spectroscopy findings in six patients with neurofibromatosis type 1 (NF1) and asymptomatic focal brain lesions. Variations in imaging appearances were seen, including regression of a previously identified lesion. MR spectra for the lesions and corresponding areas of normal brain show significant differences. The lesions could be separated into two groups, one demonstrating only slight metabolite ratio changes relative to normal brain and the other group showing significant increase in choline and decrease in N-acetyl aspartate. The lesion which regressed fell into the second group. These findings are not in agreement with those previously reported and provide evidence for the varied and possibly transient nature of these asymptomatic lesions. The spectroscopy findings suggest that metabolite changes may be present without visible changes on MRI. Received: 10 September 1999/Accepted: 26 June 2000     

Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma

Plexiform neurofibroma (PNF) is a typical feature of neurofibromatosis 1 (NF1). About 10% of patients with NF1 develop malignant peripheral nerve-sheath tumours (MPNST), usually arising from PNF, and this is the major cause of poor survival. A better prognosis can be achieved if the tumours are diagnosed at an early stage. Our objective was to establish MRI criteria for MPNST and to test their usefulness in detecting early malignant change in PNF. MRI was performed on 50 patients with NF1 and nerve-sheath tumours, of whom seven had atypical pain, tumour growth or neurological deficits indicative of malignancy; the other 43 were asymptomatic. On MRI all seven symptomatic patients had inhomogeneous lesions, due to necrosis and haemorrhage and patchy contrast enhancement. In one patient, the multiplicity of confluent tumours with inhomogeneous areas in addition to central lesions did not allow exclusion of malignancy. Only three of the 43 asymptomatic patients had comparable changes; the other 40 patients had tumours being of relatively homogeneous structure on T1- and T2-weighted images before and after contrast enhancement. All three asymptomatic patients with inhomogeneous lesions were shown to have MPNST.     

Spontaneous remission of chiasmatic/hypothalamic masses in neurofibromatosis type 1: report of two cases

We report two children with neurofibromatosis type 1 showing enhancing masses on MRI suggesting neoplasms in the chiasm and hypothalamic region. In both patients no visual or endocrinal dysfunction was present. On serial MRI spontaneous partial remission was found, implying that a cautious approach to therapeutic management of similar cases should be taken. Received: 10 June 1998 Accepted: 15 July 1998     

Atypical focal non-neoplastic brain changes in neurofibromatosis type 1: mass effect and contrast enhancement

Abstract Children and young adults with neurofibromatosis type 1 often have small high-signal foci on T2-weighted images of the brain. We describe follow-up of two patients in whom one of the foci had atypical features, commonly regarded as signs of a neoplasm. In the first, one lesion showed temporary contrast enhancement and decreasing mass effect. The second developed an expanding lesion that increased minimally in size over 4.5 year's follow-up. The borderline between neoplastic and non-neoplastic lesions seems to be indistinct. Received: 12 September 2000 Accepted: 29 November 2000     

Assessment of vertebral scalloping in neurofibromatosis type 1 with plain radiography and MRI

AIM: To evaluate vertebral scalloping in patients with neurofibromatosis type 1 (NF-1) and spinal deformity using plain radiographs and magnetic resonance imaging (MRI), and to determine the possible aetiological association with neurofibromas, dural ectasia and lateral meningocoeles. MATERIAL AND METHODS: Nineteen patients with NF-1, who had full spine radiographs and whole-spine MRI, were retrospectively reviewed. Dystrophic features and their relationship to the curve were recorded from radiographs. A comparison was then made between the dystrophic features evident on radiographs and adjacent soft-tissue abnormalities identified on MRI. RESULTS: Dystrophic changes were documented in 16 patients on plain radiographs and in all patients on MRI. Rib pencilling was the most common finding on radiographs. In 80% of the cases with scoliosis, scalloping was seen on the concavity of the curvature. In all patients with kyphoscoliosis, scalloping was contiguous to the apex of kyphosis. Twenty-four areas of scalloping were identified on MRI. Scalloping usually developed in the concavity of the scoliotic curve or at levels unrelated to the curve. Scalloping was evident in combination with dural ectasia or neurofibroma in 15 cases. The presence of dural ectasia was confirmed in 75% of the cases of posterior scalloping and in 25% of those of lateral scalloping. The presence of neurofibromas was recognized in 25% of the cases of anterior or lateral scalloping. Dural ectasia was identified in two patients without associated scalloping. Lateral meningocoeles were not related to the development of scalloping. CONCLUSION: Whereas posterior scalloping was commonly associated with dural ectasia, anterior and lateral scalloping were commonly the result of primary mesodermal dysplasia.