Massive spontaneous haemorrhage in a plexiform neurofibroma: A case report and discussion of the literature

Neurofibromatosis Type 1 (NF1) is a neurocutaneous tumour syndrome characterised by mutations in the NF1 gene and resultant neurofibromin protein. The condition is associated with several stigmata of variable penetrance, including various tumours. Massive and fatal haemorrhage arising from plexiform neurofibromas has been described in NF1 patients, though it is a rare clinical entity. The aetiology of massive haemorrhage in NF1 patients appears to be related to vasculopathy, including aneurysms and pseudoaneurysms, often arising within plexiform neurofibromas. There is currently no evidence-based consensus for managing this rare clinical emergency, likely as a result of its low incidence. We describe a case of massive haemorrhage in an NF1 patient managed via embolisation and discuss the literature.     

Radiomic biomarkers informative of cancerous transformation in neurofibromatosis-1 plexiform tumors

Background

This study explores whether objective, quantitative radiomic biomarkers derived from magnetic resonance (MR), positron emission tomography (PET), and computed tomography (CT) may be useful in reliably distinguishing malignant peripheral nerve sheath tumors (MPNST) from benign plexiform neurofibromas (PN).

Elevated ankyrin G in a plexiform neurofibroma and neuromas associated with pain

Ankyrin G has recently been shown to be responsible for activation of sodium channels in the developing and regenerating axonal membrane. Via this sodium channel mechanism, elevated ankyrin G levels have been linked with spontaneous ectopic hyperexcitability and thus with pain phenomena in nervous tissue. Ankyrin G, a transmembrane, structural protein of the axon, was examined in four conditions: (a) painful plexiform neurofibroma; (b) painful neuroma; (c) non-painful neuromas; (d) normal nerve. Neurofibroma tissue was obtained from an 18-year old male patient who developed an intensely painful, plexiform neurofibroma of the posterior femoral cutaneous nerve and subsequently underwent surgery. Sample proteins were separated by PAGE and labeled with anti-ankyrin G antibodies in a Western blot procedure. RESULTS: The ankyrin G band density (mug) of protein for the painful neurofibroma was 6014 and was 3557 for the painful neuroma as compared to 3041, 1988 and 606 (mean+/-SD=1878+/-1221) for the three non-painful neuromas. Ankyrin G expression in normal nerves (8 specimens from 7 patients) was comparatively less (mean+/-SD=411+/-339). CONCLUSION: Our results may represent the first evidence for abnormally increased levels of ankyrin G protein with painful neurofibromas. Due to ankyrin G's multifunctional role in the development and remodeling of excitable membranes, it can be hypothesized that the significant increase contributes to the development of hyperexcitable axonal membranes in neurofibromas and potentially other peripheral pain conditions.     

Thyroid gland neurofibroma in a NF1 patient

Neurofibromas are a hallmark of neurofibromatosis type 1 (NF1). They are usually benign and rarely present in the thyroid gland region. There is a suspected association between NF1 and intramedullary thyroid carcinoma and there is a well-known association between NF1 and pheochromocytoma. Here, we present a 55-year-old man with typical symptoms of NF1, whose course was complicated by a neurofibroma of the thyroid gland. His clinical spectrum of symptoms included bilateral cataract established before the age of 35 years, quadriparesis and an intrathoracic mass. The patient died because of abdominal carcinomatosis of unknown origin. The rarity of thyroid gland neurofibroma is discussed here, emphasizing the importance of early detection of these and other NF1 complications, also including the risk of malignant transformation with lethal outcome.     

Rosai-Dorfman disease presenting with multiple orbital and intracranial masses

Rosai-Dorfman disease is an idiopathic histocytic proliferative disorder typically characterized by painless cervical adenopathy, fever, and weight loss. Extranodal manifestations are responsible for presentation in approximately 25% of patients. Orbital involvement has been described in about 10% of patients. There have been only 16 reported cases of Rosai-Dorfman disease presenting with an intracranial mass. We report an unusual case of a patient presenting with bilateral orbital tumors as well as multiple intracranial masses. Clinical, magnetic resonance imaging, and histopathological features are discussed. Received: 13 October 1995 / Revised, accepted: 22 November 1995     

Primary extramedullary orbital plasmacytoma in a child

We describe a rare case of extramedullary plasmacytoma of the orbit in an 11-year-old boy. Immunoperoxidase staining of the tissue was positive for IgG, chain and negative for chain. Serum and urine electrophoresis showed no M spike. Systemic examination and bone marrow aspirate failed to show generalised involvement. The tumour was completely excised and radiotherapy given postoperatively.     

The nerve sheath tumor,solitary and in von Recklinghausen's disease; A unitary mesenchymal concept

Summary The characteristic cell of peripheral nerves, the Schwann cell, is capable of forming peripheral myelin, but also of forming collagen and reticulin fibers and of being transformed into macrophages. This kind of cell has been demonstrated under circumstances in which its formation from pre-existing Schwann cells is precluded, as in regenerative foci within the brain in multiple sclerosis. It is suggested that this cell is a specilized mesenchymal element, and that it may be formed by maturation of the multipotential primitive reticular cells which give rise to other specialized mesenchymal elements in appropriate circumstances, and which are present in the brain as well as in most other tissues.It is suggested that only one type of neoplasm of specific Schwann cell origin exists, this being the same in the presence or absence of von Recklingshausen's neurofibromatosis. It may most simply be designated as the nerve sheath tumor. Von Recklinghausen's disease, however, is characterized by the occurrence of hamartomatous and degenerative phenomena, as well as the tendency to neoplasia, and these alter the appearnce of the specific nerve sheath tumor and of non-neoplastic segments of peripheral nerves. In addition, some neoplasms observed in this disease have been interpreted as of Schwann cell origin when, in fact, they are less specific fibromas originating in other connective tissue elements of a nerve, or in the extra-neural connective tissues. The term neurofibroma appears to have been applied to both of these phenomena, i.e., to degenerative, non-neoplastic changes in nerves, and to neoplasms which may not have originated in Schwann cells or even within peripheral nerves; its continued use is not warranted.

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Zusammenfassung Die für den peripheren Nerven kennzeichnende Zelle, die Schwannsche Zelle, ist imstande, sowohl Myelin vom peripheren Typ als auch Kollagen und Reticulin zu produzieren und als Makrophage tätig zu sein. Diese Fähigkeit der Zelle konnte unter solchen Umständen beobachtet werden, unter denen ihre Bildung aus autochthonen Schwannschen Zellen zwingend ausgenommen werden mußte, wie z.B. in den Foci der multiplen Sklerose im Gehirn. Es wird die Annahme vorgebracht, daß diese Zelle ein besonderes bindegewebiges Element ist, das sich durch Reifung von den multipotenten primitiven Reticulumzellen ableitet, die unter bestimmten Umständen auch andere spezielle mesenchymale Elemente produzieren, und die im Gehirn wie in den meisten anderen Geweben vorhanden sind.Ferner wird postuliert, daß es nur eine einzige Art von Geschwülsten der Schwannschen Zelle gibt, ungeachtet dessen, ob die von Recklinghausensche Neurofibromatose vorliegt oder nicht. Diese Geschwulst sollte einfach als Nervenscheidentumor bezeichnet werden. Die Recklinghausensche Krankheit ist jedoch durch das Vorkommen von Hamartomen und degenerativen Phänomenen sowie durch eine Bereitschaft zur Geschwulstbildung gekennzeichnet. Diese Momente ändern das Bild eines spezifischen Nervenscheidetumors sowie das der nichtneoplastischen Segmente des peripheren Nerven. Einige Geschwülste, die bei dieser Erkrankung vorkommen, wurden als Derivate der Schwannschen Zellreihe angesehen, während sie in Wirklichkeit weniger spezifische Fibrome sind, die ihren Ursprung von anderen Bindegewebselementen des Nerven oder des extraneuralen Gewebes nehmen. Die Bezeichnung Neurofibrom hat man anscheinend auf beide dieser Phänomene angewandt, d.h. auf Fälle, von regressiven, nicht-neoplastischen Veränderungen der Nerven und auf solche Geschwülste, die ihren Ursprung möglicherweise weder von der Schwannschen Zelle noch überhaupt im peripheren Nerven genommen hatten. Die weitere Anwendung dieser Bezeichnung erscheint unberechtigt.

     

Laryngeal plexiform schwannoma as first symptom in a patient with neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by bilateral vestibular schwannomas. The initial symptoms of NF2 are usually hearing loss and tinnitus caused by vestibular schwannomas. Although other intracranial, spinal, or skin tumors also occur in NF2, laryngeal lesions are very rare. We report a rare case of NF2 with laryngeal plexiform schwannoma as first symptom. A 38-year-old man presented with a smooth-surfaced submucosal supraglottic mass. Two round masses in the left chest wall and left supraclavicular fossa were noted incidentally during investigation of the laryngeal mass. Magnetic resonance imaging (MRI) findings for these masses were identical to those of the laryngeal mass. No typical symptoms related to NF2 were identified. Histologically, the laryngeal tumor represented plexiform schwannoma. We thus considered that the two round masses in the left chest wall and left supraclavicular fossa might also represent plexiform schwannomas. NF2 was suspected, as a high incidence of multiple plexiform schwannomas has been suggested for patients with NF2. MRI of brain lesions demonstrated bilateral vestibular schwannomas and multiple meningiomas. Finally, NF2 with laryngeal plexiform schwannoma was diagnosed. Recognizing that multiple plexiform schwannomas could be associated with NF2 is important.     

Lhermitte-Duclos disease

Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) is a rare pseudo-neoplastic disorder of the cerebellum with typical MRI findings. A 25-year-old man presenting with progressive neck pain, dizziness, and impaired vision is reported. CT and MRI revealed a left cerebellar haemispheric mass and obstructive hydrocephalus. Lhermitte-Duclos disease was histologically confirmed after surgical removal of the lesion. The typical MRI appearance of a nonenhancing haemispheric cerebellar mass with preservation and exaggeration of the normal gyral pattern allows pre-operative diagnosis of this condition. The literature is reviewed and clinical presentation, radiology and histopathology are discussed.     

Spinal coning after lumbar puncture in a patient with undiagnosed giant cervical neurofibroma

Lumbar puncture in the presence of an intracranial tumor with raised intracranial pressure is known to have catastrophic consequences due to herniation of intracranial contents through the tentorial hiatus or foramen magnum. There are relatively few case reports about the same sequence of events when lumbar puncture is performed below the level of a complete spinal block. The mechanism of such deterioration is also subject to conjecture as the spinal cord (unlike the uncus or cerebellar tonsils) is tethered by the dentate ligament and roots on either side, and is hence less mobile. We present one such case of spinal coning and review the available literature.     

Magnetic resonance angiography in moyamoya disease

Spontaneous occlusion of the circle of Willis, i.e., moyamoya disease (MMD), is a clinical disease entity angiographically characterized by progressive and bilateral stenosis of the carotid bifurcation, with a hazy collateral network at the base or convexity of the brain. Although the importance of computed tomography (CT) and conventional magnetic resonance (MR) imaging in diagnosing MMD has already been determined, conventional arteriography is still regarded as necessary for definitive diagnosis. Magnetic resonance angiography (MR-A) is a very recent vascular imaging technique which allows noninvasive and direct imaging of vessels without the use of contrast medium. We present four pediatric cases of MMD, evaluated by conventional angiography, CT, MR imaging, and MR-A. Our data demonstrate thatMR-A is successful both in allowing detection of occlusive disease of the basal portion of the internal carotid artery and large branch basal cerebral vessels and demonstrating the collateral vessels at the base of the brain. As a noninvasive procedure, MR-A promises to become a valuable alternative to classical angiography in the diagnosis of MMD.     

Transient reduced diffusion in the cortex in a child with prolonged febrile seizures

We report on a 4-year-old boy with transient reduced diffusion in the cortex, thalamus, and hippocampus on diffusion-weighted imaging (DWI) performed after prolonged febrile seizures (PFS). He had experienced intermittent right hemiconvulsions lasting about 90 min during the febrile illness, but his neurological symptom resolved completely after several hours. DWI performed immediately after the PFS showed abnormally high signal intensities in the left extended cortex and pulvinar of the ipsilateral thalamus. Two days later, these DWI lesions resolved completely, but abnormally high signal intensities were observed in the left hippocampus. Three months later, the DWI was normal, and no atrophy or gliosis was seen. This patient had unique lesions on DWI after PFS, but it is nevertheless important to attend to such lesions on the DWI of patients with PFS.     

Localized proton magnetic resonance spectroscopy of a cerebellar tumor in a two-year-old child

Noninvasive localized proton magnetic resonance spectroscopy (MRS) was used for differential diagnosis of a focal brain lesion in a 2.5-year-old girl. The clinical signs were a mild head tilt and neck pain. Magnetic resonance imaging (MRI) revealed a lesion in the right hemisphere of the cerebellum, but its nature remained obscure. In this lesion quantitative determinations of cerebral metabolites by fully relaxed, short-echo-time proton MRS revealed markedly lowered N-acetylaspartate (NAA) and pronounced elevations of choline-containing compounds (Cho) and myo-inositol (Ins), whereas metabolite concentrations in cortical gray matter and white matter were within normal ranges. The metabolite pattern of the lesion indicated loss of vital neuroaxonal tissue (low NAA) and enhanced glial proliferation (high Cho and Ins), which, together with the MRI morphology, suggested a brain tumor. The diagnosis was established by neurosurgical exploration and total extirpation of the tumor. Histology confirmed an astrocytoma (WHO II). After 2 weeks' recovery the child was discharged with no neurological signs.     

Paroxysmal dysarthria and ataxia in a patient with Behçet's disease

The paroxysmal attacks which are frequently encountered in the course of multiple sclerosis (MS) are characterised by their sudden onset, short duration and frequent repetition. Such attacks have also been reported in some other diseases affecting the CNS, such as systemic lupus erythematosus. However, to our knowledge, they have not been reported in neuro-Behçet's disease (NBD). A patient with NBD who developed paroxysmal dysarthriaataxia attacks is presented, and the similarity of some clinical, laboratory, and neuroradiological aspects of NBD and MS are discussed with special emphasis on magnetic resonance imaging findings.This work was presented as a poster at the Multiple Sclerosis Symposium (Istanbul, 8–11 May 1994)     

帕金森病患者嗅觉障碍与嗅觉相关脑区结构变化关系的研究

目的利用基于体素的形态学分析(VBM)研究原发性帕金森病患者嗅觉相关脑区结构改变及其与嗅觉障碍之间的关系,探讨其作为早期诊断的可能性。方法应用"五味嗅觉测试液"对26例诊断明确的早期原发性帕金森病患者进行嗅觉功能检测,并与年龄、病程和病情严重程度[帕金森病统一评价量表(UPDRS)]进行相关分析。磁化准备快速梯度回波序列获取三维结构图像,SPM5软件后处理,通过配准、分割获得白质密度图像,经调试获得白质体积图像。结果帕金森病组患者嗅觉察觉阈值和嗅觉识别阈值分别为0.66±0.84和2.41±0.74,显著高于对照组的-0.64±0.83和1.08±0.54(Z=4.455,P=0.000;t=4.898,P=0.000)。帕金森病组患者嗅觉功能与年龄(察觉阈值:r_s=0.199,P=0.330;识别阈值:r_s=0.256,P=0.207)、病程(察觉阈值:r_s=0.123,P=0.550;识别阈值:r_s=0.055,P=0.789)及UPDRSⅢ评分(察觉阈值:r_s=0.229,P=0.260;识别阈值:r_s=0.379,P=0.056)无明显相关性;UPDRS总评分与嗅觉察觉阈值无相关性(r_s=0.314,P=0.118),但与嗅觉识别阈值呈正相关(r_s=0.397,P=0.045)。与对照组相比,原发性帕金森病组患者右侧枕叶(BA17～19区)、左侧扣带回后部(BA23,30,31区)、左侧枕叶(BA18,19区)和左侧中央旁小叶(BA3～5区)白质密度,以及双侧枕叶(BA17～19区)、左侧扣带回后部(BA23,30,31区)和左侧中央旁小叶(BA3～5区)白质体积均增加,且左侧扣带回后部白质密度增加与嗅觉识别阈值呈负相关(r_s=0.496,P=0.010)。结论原发性帕金森病患者嗅觉功能明显减退,但与年龄及病程均无相关性。有嗅觉减退的早期帕金森病患者其嗅觉相关脑区,尤其是神经纤维通过的白质脑区存在明显的病理变化,可能提示帕金森病患者嗅觉障碍是中枢神经变性的结果。与此同时,VBM法作为一种客观分析方法,弥补了兴趣区分析法的缺点,可以广泛用于帕金森病或神经变性疾病的诊断分析。     

Marchiafava-Bignami病的临床及影像学研究

目的 探讨Marchiafava-Bignami病(MBD)的临床及影像学改变.方法 回顾性分析了7例MBD患者的临床和CT、MRI资料,包括病灶形态、分布、信号或密度改变等影像学特征:4例同时行CT和MRI检查,2例仅行CT检查,1例仅行MRJ检查.结果 本组患者急性型5例,均表现为胼胝体肿胀及长T1、长T2信号改变,均有双侧脑室周围白质、额叶皮层下白质对称性累及:慢性型2例,胼胝体明显萎缩变薄,并呈长T1、长T2信号及FLAIR像点片状或线样低信号灶.5例患者DWI显示病灶区信号明显增高并有2例出现弥散受限改变.结论 MBD具有特征性MRJ表现,其影像学改变可能反映其临床及预后.     

Meningioma of the cavernous sinus in a child

Intracranial meningiomas in children are rare, representing 1–4.2% of central nervous system tumors and 1.5–1.8% of all intracranial meningiomas. Meningiomas arising from the lateral wall of the cavernous sinus account for less than 1% of all intracranial meningiomas. To our knowledge, only one case of a meningioma arising from the cavernous sinus has been reported in childhood. A 6-year-old boy presented with left ophthalmoplegia. A slight drooping of the left eyelid was noted at the age of 1 year. Magnetic resonance imaging (MRI) with contrast administration revealed an enhancing mass lesion located in the left cavernous sinus. The tumor, arising from the lateral wall of the cavernous sinus, was totally removed and the oculomotor nerve was reconstructed with a sural nerve graft. MRI displayed total tumor removal 1 month after the surgery. The pathological diagnosis was of a psammomatous meningioma. Received: 6 March 1998 Revised: 14 July 1998     

Metabolic changes in 37 newly diagnosed Wilson's disease patients assessed by magnetic resonance spectroscopy

Wilson's Disease (WD) is a rare autosomal recessive disorder. The literature about proton MR spectroscopy (MRS) in WD is based mostly on data derived from patients undergoing treatment. The aim of this study was to identify brain metabolic changes in newly diagnosed WD patients using MRS to elucidate the pathomechanism of the cerebral pathology of WD. The globus pallidus and thalamus of 37 patients with WD were examined bilaterally with MRS. The calculations were performed for: myoinositol (mI), choline (Cho), creatine (Cr), N-acetyl-aspartate (NAA), lipid (Lip), glutamine, and glutamate (Glx). In all WD patients a significantly decreased mI/Cr and NAA/Cr ratio levels and an increased Lip/Cr ratio in the pallidum were observed. Analysis revealed a significantly increased Glx/Cr and Lip/Cr ratio in the thalamus. In the pallidum of neurologically impaired patients, Cho/Cr, Glx/Cr and Lip/Cr ratios were higher than in control subjects, and the NAA/Cr was significantly lower. In hepatic patients, the mI/Cr, Cho/Cr and NAA/Cr ratio levels were lower than in controls. The Cho/Cr and Lip/Cr ratios were higher in the thalami of neurologically impaired patients, and Lip/Cr ratios were higher than controls' in hepatic patients. Both findings were statistically significant. Compared to the thalamus, the basal ganglia are more sensitive to ongoing degenerative changes and portal-systemic encephalopathy in WD. The NAA/Cr reduction in hepatic and neurologically impaired patients could indicate that neurodegeneration is associated with all presentations of WD. In hepatic patients a mI and Cho decrease and in neurological Glx increase can be caused by porto-systemic shunting.     

伴有和不伴有抑郁的阿尔茨海默病患者在静音Stroop任务下脑功能激活的差异

目的 研究Alzheimer病(AD)与AD伴抑郁患者(depression in Alzheimer's disease,dAD)在注意任务下脑功能激活区的差异.方法 收集临床诊断轻度AD患者20例,符合《精神疾病诊断与统计手册第Ⅳ版》标准(DSM-Ⅳ),其临床痴呆评定量表(CDR)评分1.0,其中9例dAD患者符合国立精神疾病研究院制定的痴呆伴抑郁的诊断标准(NIMH-dAD标准),其康奈尔痴呆中抑郁量表评分(CSDD)＞12.另有10名健康老龄者为对照组.在静音Stroop任务下,计算完成任务的反应时间、错误率和漏报率等行为学指标,同时采集fMRI脑部功能图像,使用SPM2软件分析.结果 dAD、AD与对照组的反应时间(ms)分别为2214.4±107.1、2020.6±558.3、840.0±254.5,dAD与AD组均明显慢于对照组(P＜0.01),且dAD组比AD组更慢(P=0.04).dAD、AD、对照组的错误率分别为:8.3%、6.9%、0.7%;其漏报率分别为:3.6%、2.9%、0,虽然dAD与AD组在错误率(P=0.13)和漏报率(P=0.10)间并无差异,但均明显高于对照组(P＜0.01).对照组在双侧前额背外侧皮质、双侧前扣带回、右侧顶叶和左额下回有明显的激活.AD组仅在左侧顶叶、左前扣带回和右额叶背外侧皮质等有少量激活.dAD组仅在前额皮质和部分右侧前额背外侧皮质处有少量激活.结论 与对照组相比,AD伴有和不伴抑郁的患者均存在异常的脑功能成像,但二者间有着明显的差别,抑郁加重AD的注意功能损害.     

MRI volumetry and proton MR spectroscopy of the brain in Lafora disease

PURPOSE: To determine brain involvement in Lafora disease by means of 3-T MRI volumetry and 1H magnetic resonance (MR) spectroscopy. METHODS: Ten patients with Lafora disease and 10 healthy controls were included in the study. The diagnosis of Lafora disease was proven genetically by the presence of mutations in the EPM2A gene in all patients, and their evolution was staged in three groups according to their functional state. MRI volumetry was performed by means of AX3DT1 images with assessment of the cerebellum and the brainstem, by using the program Stereonauta, and all the brain structures, by using voxel-based morphometry. [1H]MR spectroscopy was performed by using an Eclipse PRESS sequence probe system with 8-cc voxels positioned in the occipital and frontal cortexes, basal ganglia, pons, and cerebellar hemispheres. Spectral peak areas corresponding to NAA (N-acetylaspartate), creatine, and choline were obtained. RESULTS: MRI volumetry showed no statistically significant differences in patients compared with healthy controls in any of the analyzed structures. Analysis of [1H]MR spectroscopy data showed a statistically significant reduction in the NAA/creatine ratio in patients compared with controls in the frontal (p = 0.001) and occipital cortex (p = 0.043), basal ganglia (p = 0.002), and cerebellar hemispheres (p = 0.007). The NAA/choline and choline/creatine ratios were statistically significantly different in the frontal cortex (p = 0.005). No correlation was observed between the disease-evolution stage and MRI-measured volumes (range, -0.92 to 0.44) or [1H]MR spectroscopy values (range, -0.29 to 0.50). CONCLUSIONS: In our series of Lafora disease patients, [1H]MR spectroscopy was more sensitive than structural MRI to detect brain involvement. The brain cortex, especially frontal cortex, cerebellum, and basal ganglia, showed the greatest metabolic changes.