Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter’s Syndrome (KS)

Objects Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma presenting with Klinefelter’s Syndrome (KS) as co-morbid condition. Materials and methods The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate reductase (MTHFR); at 30 months of age he was operated on for a grade II ependymoma of IV ventricle; after a multiple-stage surgery, he underwent oral chemotherapy and stereotactic radiotherapy, but after 15 months he presented a local recurrence and died. The second patient was diagnosed for KS at the age of 16 months; at 10 years of age, due to back pain, he underwent an MRI, which showed a cauda equine tumor. He underwent surgery and radiotherapy. Histology was of mixopapillary ependymoma. Conclusion In a review of literature, various neoplasms have been described in association with KS. To our knowledge, these are the first two cases reported of ependymoma associated to KS. A retrospective study of 44 monoinstitutional ependymoma cases demonstrated association with genetic syndromes in 22%.     

Myxopapillary ependymoma of lumbosacral region with metastasis to both cerebellopontine angles: report of a rare case

Introduction Myxopapillary ependymomas are low grade tumours that are known to recur locally even after complete excision, but metastasis to distant sites is extremely uncommon. Case report We report an unusual case of lumbo-sacral myxopapillary ependymoma in a 13-year-old boy with metastasis to both cerebellopontine angles. To the best of our knowledge, this is the youngest patient of metastatic myxopapillary ependymoma.     

Monitoring motor function during resection of tumours in the lower brain stem and fourth ventricle

Objectives Even in the days of modern microsurgery, the removal of a brain stem lesion remains a surgical challenge. Especially when operating on children, the prognosis is directly related to the radicality of the resection; however, a radical resection is often associated with surgical morbidity. Intraoperative neuromonitoring could help to minimise the surgical morbidity, but few studies have been performed to clarify the value of this monitoring. We investigated a prospective series of 21 patients with lesions involving the brain stem for the prognostic value and benefits of neuromonitoring.Methods We performed intraoperative neuromonitoring of cranial nerve function by electromyography (EMG) and motor evoked potential (MEP). The results were correlated with postoperative neurological deficits.Conclusions There is a good correlation between intraoperative neurophysiological events and postoperative neurological deficits in patients with lesions of the brain stem. In general, transient, prolonged, spontaneous activity in EMG is associated with a transient paresis of the respective muscle, whereas a permanent spontaneous activity is associated with a permanent deficit. Intraoperative neuromonitoring reliably predicts postoperative neurological function in patients with tumours of the lower brain stem and fourth ventricle. This neuromonitoring guides the neurosurgeon in the operation and may decrease surgical morbidity. We recommend using monitoring of MEP and EMG of the lower cranial nerves in surgery on all patients with lesions involving the lower brain stem and fourth ventricle.     

Anaplastic Ependymoma of the Spinal Cord in Childhood A Case Report

We report a 6-year-old girl with anaplastic ependymoma probably originating in the region of the conus medullaris and probably spreading retrogradely to the region of the interventricular foramen (Monro) through the cere-brospinal fluid (CSF). Since ependymoma of the spinal cord rarely occurs in children, and retrograde spreading is extremely rare, the histological features and mechanism of metastasis of the tumor are discussed.     

Ependymomas of the filum terminale in childhood: report of four cases and review of the literature

Four cases of ependymoma of the filum terminale occurring in childhood are reported. The clinical, therapeutic and prognostic features seen at this age and in adults were compared.     

Intramedullary spinal cord ependymomas — a study of 45 cases with long-term follow-up

Summary Of the 62 patients with intramedullary spinal cord ependymoma treated surgically at our Neurosurgery Division between January 1951 and December 1990 45 had a follow-up of at least 3 years and the longest 30 years. The 28 conus-cauda equina-filum ependymomas operated during the same period are not considered in this study. An analysis of our cases and of the larger published series shows that favourable prognostic factors, apart of course from total tumour removal, which is now usually possible, are a site below the high cervical segments and a mild pre-operative symptom pattern. Patient age at diagnosis, tumour size and low dose (< 40 Gy) radiotherapy seem to have no influence on the prognosis. Aggressive surgical removal is the treatment of choice and also for long-term recurrence.     

脑实质室管膜瘤的MRI诊断价值

目的 探讨脑实质室管膜瘤的磁共振成像表现.方法 回顾性分析我院2009年1月-2011年6月经病理证实的50例脑实质室管膜瘤的临床资料.结果 50例患者位于幕上的病灶有40例,位于幕下的病灶有10例,脑实质病灶合并脑室病灶的有6例,患者均有轻中度水肿.结论 磁共振成像能清楚显示室管膜瘤病灶,对诊断及鉴别诊断脑实质室管膜瘤具有重要价值.     

青少年幕上脑实质室管膜瘤CT及MRI影像表现与病理类型的相关性研究

目的 分析青少年幕上脑实质室管膜瘤的CT及MRI影像表现特点,研究其与病理分级的相关性,以提高CT、MRI在青年室管膜瘤中的应用价值.方法 筛选幕上脑实质室管膜瘤患者42例作为研究对象.所有患者均经手术及病理证实为幕上脑实质室管膜瘤,术前行MRI、螺旋CT平扫及增强扫描.结果 42例患者中Ⅱ级者10例,Ⅲ级者32例,CT及MRI影像学检查明确Ⅱ级者8例,Ⅲ级者28例,另有4例无法确定,影像学检查分级评价结果与病理检查结果比较无显著差异,不具有统计学意义(P＞0.05);CT及MRI影像中,42例均为颅内囊实性占位病变,其中25例囊变位于病灶周边.MRI示42例病灶囊性部分呈长T1与长T2表现,实性为不均匀等T1、等T2信号,DWI表现为中高信号;CT检查实性病变为稍高密度,增强扫描33例呈不均匀及分房分隔样强化,9例实性部分强化较均匀,囊壁均可见环形强化;脑水肿影像评估无明显水肿及轻度16例,中度10例,重度15例,表示脑水肿及水肿程度与病理分级并无相关性,不对病理分级产生影响.结论 幕上脑实质室管膜瘤患者术前行CT及MRI检查对评估其病理分级及具体病情具有一定意义,对临床手术治疗具有指导价值.     

Multi-disciplinary treatment of a rare pelvic cavity ependymoma

Ependymomas usually develop from neuroectodermal organs. Here, we present an ependymoma arising from the pelvic cavity. A 27-year-old Korean female was admitted to the hospital with a sensation of abdominal fullness. Imaging studies revealed a huge heterogeneous nodular mass in the pelvis and lower abdomen. Laparotomy showed that two large masses with multiple nodules were located between the uterus and rectum and uterus and bladder, respectively. Histologically, the tumor was characterized by compact columnar neoplastic cells divided by fibrovascular septae. The neoplastic cells formed true ependymal rosettes and perivascular pseudorosettes. Immunohistochemical staining showed a strong positive reaction for glial fibrillary acidic protein (GFAP) and vimentin and a partial positive reaction for S100 and EMA. The tumor was thus diagnosed as an ependymoma arising from the pelvic cavity. The patient was treated with a debulking operation and chemotherapy based upon the in vitro chemosensitivity test results. The patient was free of cancer for 4 years following surgery. This is a rare case of extraneural ependymoma for which an in vitro chemosensitivity test was critical in determining the multidisciplinary approach for treatment.     

脊髓室管膜瘤MRI特征分析及其鉴别诊断

目的探讨脊髓室管膜瘤的MRI特征。资料与方法回顾性分析经病理证实的16例脊髓室管膜瘤,所有患者均行MRI平扫和增强扫描,分析肿瘤部位、大小、生长方式、信号特点及强化方式,有无囊变、出血及“帽征”。结果全部脊髓室管膜瘤呈中心性生长,3例终丝室管膜瘤合并有椎间孔扩大,肿瘤平均累及2．7个椎体。在平扫MRT1WI上．大部分肿瘤呈等或低信号,在T2聊上全部肿瘤呈高信号,10例肿瘤实质头端或尾端脊髓反应性囊变;3例瘤内囊变,2例可见肿瘤内出血,在T2WI上。5例肿瘤可见“帽征”。增强扫描后。15例肿瘤表现为显著强化,14例肿瘤与正常脊髓分界清楚。结论脊髓室管膜瘤MRI表现具有一定的特征性,了解这些特征,有助于脊髓室管膜瘤术前诊断和鉴别诊断。