椎管内神经源肿瘤的低场MRI诊断

目的 :评价低场MRI对椎管内神经源肿瘤的诊断价值。材料和方法 :回顾性分析 2 6例经手术病理证实的椎管内神经源肿瘤 (神经鞘瘤 16例 ,神经纤维瘤 10例 )的低场MRI表现。结果 :2 6例中肿瘤呈圆形或卵圆形 17例、长条形 1例、哑铃状 8例。神经鞘瘤 16例中T1WI呈等信号 4例 ,略低信号 4例 ,等、略低信号 8例 ,T2WI呈不均匀高信号 ;增强扫描均匀增强 2例 ,不均匀增强 14例 ,其中多灶样不增强 6例。神经纤维瘤 10例中T1WI呈等信号 6例 ,略低信号 4例 ,T2WI呈较均匀高信号 ;增强扫描均呈均匀增强。结论 :低场MRI检查能诊断椎管内神经源肿瘤 ,并能鉴别神经鞘瘤和神经纤维瘤     

Magnetic resonance imaging of elephantiasis neuromatosa

We present the case of a 43-year-old man with neurofibromatosis type 1 who developed elephantiasis neuromatosa of his left leg. The gross limb enlargement was extremely disfiguring, and resulted in such severe disability that he was only able to walk a very short distance using crutches. Previous debulking procedures had resulted in massive blood loss, and prior to attempting further surgical intervention MRI studies were requested. Taking advantage of the excellent tissue characterisation and multiplanar imaging capabilities of MRI, we were able to assess the extent of soft tissue and osseous involvement. The use of recently developed MR angiographic sequences enabled us to non-invasively provide detailed images to assess the relationship of the lesions to the major vessels, as well as the vascular supply and angiographic features of the lesions themselves. This article describes our MRI-based findings, which precluded debulking surgery in this unusual manifestation of neurofibromatosis.     

Melanotic neurofibroma: A case report with ultrastructural study

Summary The authors report a case of a solitary melanotic neurofibroma involving the temporomalar area in a 17-year-old man. Light-microscopic study reveals a benign neurofibroma including melanin deposits. Electron microscopy shows typical premelanosomes and melanosomes within Schwann cell cytoplasm. The literature is reviewed, and theories of histogenesis for this unusual tumor are discussed.     

髓外硬膜下单发神经纤维瘤的MRI诊断

神经纤维瘤由雪旺氏细胞和纤维母细胞组成,常伴随神经纤维瘤病。本文复习经手术和病理证实的８例髓外硬膜下单发神经纤维瘤的ＭＲ表现。这些病变典型的ＭＲ表现为Ｔ_１加权成像与脊髓信号相比呈等或低信号,Ｔ_２加权呈高信号。Ｔ_２加权信号高于脑脊液的区域提示囊性区。３例行Ｇｄ－ＤＴＰＡ增强Ｔ_１加权成像,未强化区显示囊变。８例中３例显示肿瘤囊变。３例通过椎间孔延伸至椎管和脊椎周围形成"哑铃"状肿块,这些肿块通常认为是神经源性的。ＭＲＩ因为能直接显示脊髓且无创伤性,已成为评估脊髓肿瘤的最有效的方法,。静脉内顺磁性造影剂强化扫描能进一步显示这类病变。     

Neurofibroma of the porta hepatis

Neurofibromas are generally well-circumscribed tumors of the nervous system, often found in association with neurofibromatosis 1 (NF1). They uncommonly present as a single sporadic form in the retroperitoneum and in the pancreas. We present a case of a 40-year-old man who presented with a 4- to 5-year history of right upper quadrant pain with associated nausea and vomiting. Medical imaging showed a 3.8 by 3.4-cm mass encasing the hepatic artery and the porta hepatis. Surgical resection was performed, with removal of the gallbladder. The mass was histologically diagnosed as a neurofibroma. At 1 year following his surgery, the patient is doing well.     

Family with Legius syndrome (neurofibromatosis type 1‐like syndrome)

Legius syndrome (Online Mendelian Inheritance in Man no. 611431) or neurofibromatosis type 1 (NF1)‐like syndrome was first reported by Legius et al. in 2007. We herein report the first instance of Legius syndrome occurring in two female siblings in Japan. Both individuals presented cafe‐au‐lait macules and freckling. Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome. The National Institutes of Health criteria for NF1 are insufficient to rule out the condition. For this reason, and because the clinical course of each condition is quite different, we stress the need to differentiate Legius syndrome from NF1 clearly.     

Massive retropharyngeal neurofibroma in a pediatric patient

Retropharyngeal tumors in Neurofibromatosis Type I patients have rarely been presented in the literature and none in a child. We present the case of an 11-year-old patient with a huge retropharyngeal plexiform neurofibroma which was successfully removed without sequelae. Radical resection is a viable option for treatment of these patients.     

A Patient with neurofibromatosis type 1 and Charcot–Marie–Tooth disease type 1B

We describe a patient with both neurofibromatosis type 1 and Charcot–Marie–Tooth disease type 1B. Although one might expect an overwhelming tumor burden due to the combination of these two disorders, the two mutations did not appear to interact. Muscle Nerve 41: 555–558, 2010