神经纤维瘤病颅脑的MRI表现

目的:探讨神经纤维瘤病(1型和2型)的MRI表现,提高对该病的正确诊断率。方法:总结和分析经临床和病理学证实的10例神经纤维瘤病(1型4例、2型6例)的MRI表现。结果:神经纤维瘤病1型4例,表现为蝶骨大翼缺损2例,其中1例合并双侧桥小脑结合臂胶质瘤,1例合并眶内丛状神经纤维瘤;2例双侧苍白球内见类圆形长T2高信号病变。神经纤维瘤病2型6例中双侧听神经瘤3例;单侧听神经瘤合并多发脑膜瘤及单发脊膜瘤1例;多发脑膜瘤合并脊神经鞘瘤1例;三叉神经鞘瘤合并多发脑膜瘤1例。结论:MRI是诊断神经纤维瘤病的最佳影像学检查方法。

Awake craniotomy for auditory brainstem implant in patients with neurofibromatosis type 2:Four case reports

BACKGROUND The auditory brainstem implant(ABI)is a significant treatment to restore hearing sensations for neurofibromatosis type 2(NF2)patients.However,there is no ideal method in assisting the placement of ABIs.In this case series,intraoperative cochlear nucleus mapping was performed in awake craniotomy to help guide the placement of the electrode array.CASE SUMMARY We applied the asleep-awake-asleep technique for awake craniotomy and hearing test via the retrosigmoid approach for acoustic neuroma resections and ABIs,using mechanical ventilation with a laryngeal mask during the asleep phases,utilizing a ropivacaine-based regional anesthesia,and sevoflurane combined with propofol/remifentanil as the sedative/analgesic agents in four NF2 patients.ABI electrode arrays were placed in the awake phase with successful intraoperative hearing tests in three patients.There was one uncooperative patient whose awake hearing test needed to be aborted.In all cases,tumor resection and ABI were performed safely.Satisfactory electrode effectiveness was achieved in awake ABI placement.CONCLUSION This case series suggests that awake craniotomy with an intraoperative hearing test for ABI placement is safe and well tolerated.Awake craniotomy is beneficial for improving the accuracy of ABI electrode placement and meanwhile reduces non-auditory side effects.

Isolated colonic neurofibroma, a rare tumor: A case report and review of literature

BACKGROUND Neurofibromas are tumors comprised of peripheral nerve sheath and connective tissue components.They can occur sporadically or as part of familial syndromes such as neurofibromatosis type 1.Isolated colonic neurofibroma without systemic manifestations is a rarely reported clinical entity.Here we present a case of a 51 years old male with an isolated colonic neurofibroma seen on a screening colonoscopy.CASE SUMMARY Fifty-one years old male who was otherwise healthy without a significant family history of cancer underwent a screening colonoscopy and was found have a 2.3 cm×1.4 cm lesion in the colon.Tissue biopsy revealed a spindle cell tumor.Magnetic resonance imaging of the pelvis was negative for adenopathy.He underwent an endoscopic ultrasound that showed an ill-defined avascular lesion of mixed echogenicity measuring 2.8 cm×15.2 cm in the submucosa with no communication with muscularis mucosa or propria.Immunohistochemistry staining of the tumor was strongly positive for S100,with rare penetrating axons deep within the tumor.Tumor cells were negative for c-kit and desmin and had low Ki-67 index.These findings were consistent with a solitary colonic submucosal neurofibroma.A detailed history and physical examination did not reveal any evidence of extraintestinal neurofibromatosis.He underwent transanal surgical resection of the tumor.The patient tolerated the procedure well without any complications.CONCLUSION While neurofibromas have been well described in literature,an isolated colonic neurofibroma is a rare pathological entity.Malignant transformation of neurofibromas has been reported in patients with neurofibromatosis syndromes.We report a case of isolated colonic neurofibroma and highlight the importance of resection due to the increased risk of tumorigenesis.

神经纤维瘤病2型的研究

神经纤维瘤病2型(neurofibromatosis type 2,NF2)为常染色体显性遗传疾病,是由位于22号常染色体上的基因突变所造成,临床上以双侧听神经瘤为主要特征。本病临床少见,诊断和治疗较复杂,预后较差。本文主要介绍NF2的病因、临床表现、诊断及治疗的研究进展。

Merlin蛋白与Ⅱ型神经纤维瘤病

Ⅱ型神经纤维瘤病（neurofibromatosis type2，NF2）是常染色体显性遗传疾病，NF2基因突变是其发病的主要分子机制，其编码蛋白产物merlin蛋白的失活与肿瘤发生密切相关，它通过与其他蛋白质相互作用，参与细胞活动，调控细胞运动和细胞增殖及其他变化。本文就merlin蛋白结构、功能调节及其与其他细胞因子相互作用机制等方面研究做一综述，以期进一步研究merlin蛋白在NF2发病机制中的作用。

Schwannomatosis： a new member of neurofibromatosis family

Background Schwannomatosis is a recently recognized peripheral nerve polyneoplasm with clinical characteristics and a genetic background that differ from those of neurofibromatosis 2 （NF2）. The diagnostic and treatment criteria of this rare disorder are herein discussed. Methods The data of 180 patients who underwent operations for benign schwannomas from 2003 to 2012 in our center were reviewed. Eight of them were classified as schwannomatosis according to the diagnostic criteria suggested by MacCollin. The demographic characteristics were documented and compared between the two groups of patients. The patients＇ clinical presentations, imaging characteristics, histological features, and treatment results were retrospectively investigated and summarized. Results Of the 180 cases of benign schwannomas we reviewed this time, eight patients presented with schwannomatosis （4.44%）. The mean age of the two groups was not significantly different （40.0 vs. 44.7 years,t=-0.88, P=0.378）. However, schwannnomatosis seems to more generally occur in females （75% vs. 48% were females, P=0.162）, although the difference was not statistically significant. The initial main symptom was pain. The neurological examination was otherwise normal. Magnetic resonance imaging （MRI） revealed multiple discrete, well-defined round, or oval lesions distributed along the course of the peripheral nerves in the extremities with low-to-intermediate signal intensity on T1-weighted images and high-signal intensity on T2-weighted images. Vestibular schwannomas were excluded in four patients by cranial MRI. The lesions in all patients were resected and were pathologically proven to be schwannomas. The average follow-up period was 26 months. Six individuals obtained a good result without symptoms or function loss. Conclusions Schwannomatosis is characterized by the development of multiple schwannomas without evidence of the vestibular tumors that are diagnostic for NF2. It commonly occurs in middle-aged females. It has similar demographic features to solitary benign schwannoma. Surgical resection always results in a .qood outcome.

Two Cases of Spinal Tanycytic Ependymoma Associated with Neurofibromatosis Type 2

INTRODUCTION Tanycytic ependymoma is a rare subtype of the World Health Organization Grade il ependymoma most commonly found in the cervical and thoracic segments of the spinal cord. Spinal tumors in neurofibromatosis type 2 （NF-2） can be intramedullary, extramedullary, or associated with the nerve roots, and there may be multiple tumors at multiple locations in the spine.

Neurofibromatosis type 2 and auditory brainstem implantation

Neurofibromatosis type 2 （NF-2） is one of the most common single gene disorders in the nervous system.For approximately 96% of patients with NF-2 present with bilateral Schwannomas involving the eighth cranial nerves, which may be accompanied by Schwannomas involving other cranial, spinal or peripheral nerves, NF-2 is also referred to as ＂bilateral acoustic neuromas＂. Due to progression of tumors, surgery or radiotherapy, patients with bilateral acoustic neuromas will eventually suffer profound or total hearing loss, resulting in decrease of quality of life （QOL）.

Clinical and scientific innovations in auditory brainstem implants

The auditory brainstem implant(ABI)was originally developed to provide rehabilitation of retrocochlear deafness caused by neurofibromatosis type 2(NF2).Recent studies of the ABI have investigated outcomes in non-NF2 cohorts,such as patients with cochlear nerve aplasia or cochlear ossification and more recently,intractable tinnitus.New technologies that improve the ABI-neural tissue interface are being explored as means to improve performance and decrease side effects.Innovative discoveries in optogenetics and bioengineering present opportunities to continually evolve this technology into the future,enhancing spatial selectivity of neuronal activation in the cochlear nucleus and preventing side effects through reduction in activation of non-target neuronal circuitry.These advances will improve surgical planning and ultimately improve patients1 audiological capabilities.ABI research has rapidly increased in the 21st century and applications of this technology are likely to continually evolve.Herein,we aim to characterize ongoing clinical,basic science,and bioengineering advances in ABIs and discuss future directions of this technology.