The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Spinal neurofibromatosis (SNF) is a related form of neurofibromatosis 1 (NF1), characterized by bilateral neurofibromas (histologically proven) of all spinal roots (and, eventually, of all the major peripheral nerve branches) with or without other manifestations of classical NF1. By rigorous application of these criteria to the 98 SNF cases published, we developed: (i) a cohort of 49 SNF patients (21 males and 28 females; aged 4-74 years]: 9 SNF families (21/49), 1 mixed SNF/NF1 family (1/49) and 27 of 49 sporadic SNF patients (including 5 unpublished patients in this report); and (ii) a group of 49 non-SNF patients including: (a) 32 patients with neurofibromas of multiple but not all spinal roots (MNFSR): 4 mixed SNF/MNFSR families (6/32); (b) 14 patients with NF1 manifestations without spinal neurofibromas, belonging to SNF (8/49) or MNFSR families (6/32); (c) 3 patients with neurofibromas in one spinal root. In addition to reduced incidence of café-au-lait spots (67% in SNF vs 56% in MNFSR), other NF1 manifestations were less frequent in either cohort. Molecular testing showed common NF1 gene abnormalities in both groups. The risk of developing SNF vs NF1 was increased for missense mutations [p = 0.0001; odds ratio (OR) = 6.16; confidence interval (CI) = 3.14-13.11], which were more frequent in SNF vs MNFSR (p = 0.0271).

A rare location of benign osteoblastoma: case study and a review of the literature.

Osteoblastoma is a solitary, benign bone tumor that is rarely localized in the frontal sinus. It consists of hypocellular mineralized tissue that may form large masses or irregular trabeculae. A 31 year old man came to our attention with a 7 month history of diplopia, photophobia, frontal headhaches and progressive exophthalmos with proptosis of the left eye. The patient was submitted to computed tomography (CT) which allowed to appraise the extension of the lesion. The mass expanded inside the left frontal sinus and the upper ethmoidal cells invading the left orbital roof. Considering the extension of the tumor, the site and the connections with contiguous structures, a combination of endoscopic endonasal technique with intraorbital approach was performed. At histological examination typical features of benign osteoblastoma were observed. The sites of predilection for the tumor are the long bones, vertebral column, and small bones of hands and feet. Its occurrence in the skull and jaw bones is relatively rare and represents only 15% of all osteoblastomas. To our knowledge, only 5 cases of osteoblastoma of the frontal sinus have been previously reported in the English-language literature. This report describes a case of benign osteoblastoma in a rare site, namely, the frontal sinus with particular attention about the differential diagnosis and the treatment.    

Cervical spine chondroma arising from C5 right hemilamina: a rare cause of spinal cord compression. Case report and review of the literature.

Chondromas are rare primary spine tumors. Only 12 cases of chondromas located in the cervical spine have been reported in the literature up to now. The authors report a case of a cervical periosteal chondroma in a 38-year-old man presenting with neck pain and a syndrome of spinal cord compression. Magnetic resonance imaging revealed a lesion that was hypo- or isointense on T1-weighted images and iso-hyperintense on T2-weighted images. Administration of Gd-DPTA resulted in margin enhancement on T1-weighted images. CT scans revealed a hyperdense calcified lesion arising from the internal surface of C5 right hemi-lamina. The patient underwent a right C5 hemi-laminectomy, with complete en-bloc removal of the lesion. The authors emphasize that early identification of the initial lesion should be coupled with total surgical resection, as a definitive treatment, in order to prevent malignant transformation.

Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.

BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterised by the development of multiple nervous system tumours, ocular abnormalities, and skin tumours. Although classically considered a disease of adults, initial signs and/or symptoms may be evident in childhood and are often unrecognised. OBJECTIVES: The aim of this study was to identify the earliest clinical presentations of NF2 and to characterise the clinical course and outcome in children with NF2. METHODS: We have performed a retrospective (years 1990-1998) and prospective (years 1998-2004) study of 24 patients (10 males, 14 females; currently aged 4 to 22 years) fulfilling the revised (Manchester) NF2 criteria seen at the Universities of Catania and Rome, Italy. RESULTS: Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset lens opacities (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and tinnitus (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: seizures secondary to intracranial meningioma (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated café-au-lait spots (n = 2); café-au-lait spots (n = 8) and skin tumours (n = 3). A family history was relevant in 20 % of the patients. Molecular genetic analysis of the NF2 gene revealed typical truncating mutations in all the 5 familial cases and in 2/10 sporadic cases analysed. CONCLUSIONS: Children with NF2 often first come to medical attention because of ocular, subtle skin, or neurological problems the significance of which is realised when they later present with more classical symptoms due to bilateral VS or other intracranial tumours. The clinical course at this young age is highly variable, depending on tumour burden, early surgical intervention, surgical outcome after tumour resection, and complications.

Neurological deterioration after head trauma in patients with colloid cysts of the 3rd ventricle. Two case histories.

The authors report 2 cases of colloid cyst of the 3(rd) ventricle (both patients previously asymptomatic) diagnosed after head trauma. Neurological deterioration due to biventricular hydrocephalus, rendering necessary an urgent bilateral CSF shunting, was observed. The possible relationship between clinical deterioration and head injury in these cases is discussed.

Nuchal fibrocartilaginous pseudomotor. Case report and review of the literature.

The case of a 30-year-old woman who, many years after a trauma to the neck, developed a hard tissue mass in the posterior midline at C5-C6 level is reported. The patient underwent surgical excision of the mass. Nucal fibrocartilaginous pseudotumor (NFP) was diagnosed. This is a very rare non-neoplastic lesion, probably arising throug a post-traumatic metaplasia of the nuchal ligament, and only 14 cases have been reported to date in the literature. The clinicopathologic and neuroradiologic features of NFP are described.

Spinal meningeal mesenchymal chondrosarcoma. Report of a new case and review of the literature.

A case of T12-L2 intraspinal extradural meningeal mesenchymal chondrosarcoma is described in a patient presenting with a clinical history of low-back pain and weakness of the lower limbs. Magnetic resonance T1-weighted Gadolinium enhanced imaging, showed an intraspinal extradural mass, extending from T12 to L2, located anterolaterally into the spinal canal and pushing posteriorly the conus medullaris. The mass was completely removed and postoperative histological diagnosis was of mesenchymal chondrosarcoma. The patient was completely symptoms-free after surgery. Intraspinal meningeal mesenchymal chondrosarcoma and treatment options are reviewed.

Spinal intradural extramedullary tumors. Personal experience.

BACKGROUND: Spinal intradural extramedullary tumors account for 2/3 of all intraspinal neoplasms and are mainly represented by meningiomas and schwannomas, with the former accounting for the 25-46% of all primary intraspinal tumors. Technical advances in imaging technique, magnetic resonance imaging (MRI) and surgical procedures have brought about significant better clinical results in the last 2 decades. Neverthless a small percentage of patients still present poor postoperative outcome mainly related to the duration of clinical history, the severity of preoperative neurological deficits and to some specific anatomo-surgical aspects. METHODS: In an effort to clarify the influence of these factors on patient's outcome, the authors analyze the clinical, surgical and prognostic data of 41 patients with intradural extramedullary spinal tumor surgically treated between January 1990 and December 1999. The follow-up period ranged from 1 to 9 years. The clinical history until admission and treatment was 3-48 months for meningiomas and 1-72 months for schwannomas. RESULTS: Morbidity and mortality rate was 5 and 0% for meningiomas and 0 and 6% for schwannomas. Almost all the patients experienced a significant neurological improvement after surgery, with a percentage of Nurick's grade 1 and 2 of 68% among patients with meningiomas and 66% among patients with schwannomas. Removal of the tumor was complete in 90% of meningiomas and 94% of schwannomas. CONCLUSIONS: The authors address radical surgery as the ideal goal in these neoplasms, as it gives the patients the best long-terms results, pointing out the importance of systematic early identification of any main radiculomedullary artery during debulking and dissection of the tumor to avoid any risk of severe postoperative neurological worsening of the patients.

Trigeminal palsy caused by triventricular hydrocephalus. A case report.

A case of left trigeminal palsy caused by triventricular hydrocephalus and completely recovered after ventriculo peritoneal shunt is reported. The case was studied by MR before and after the operation. Preoperative MR showed triventricular hydrocephalus with marked reduction of the left Meckel's cave. Following ventriculo peritoneal shunt the patient showed a complete recovery of the left 5th nerve palsy and NR showed the expansion of the left Meckel's cave. The authors suggest that the trigeminal palsy was due to intracranial hypertension probably associated to a weakness of the lateral wall of the left Meckel's cave. No similar case have been previously reported in the literature.

Oculomotor palsy and supraclinoid internal carotid artery aneurysms. Personal experience and review of the literature.

Oculomotor palsy related to the presence of an intracranial aneurysm arising from the supraclinoid internal carotid artery (ICA) is a well known and described clinical condition. Recent microanatomical and clinical evidences seem to demonstrate that the pathophysiology of the aneurysm-related III nerve palsy could be interpreted as that of any other cranial nerve's neurovascular compression syndrome. The authors review their personal experience with supraclinoid ICA aneurysms related to oculomotor palsy and the data of the literature, aiming to elucidate a better clinical, therapeutic and prognostic correlation to these factors.

Tetraspan microdomains distinct from lipid rafts enrich select peptide-MHC class II complexes.

Complexes of peptide and major histocompatibility complex (MHC) class II are expressed on the surface of antigen-presenting cells but their molecular organization is unknown. Here we show that subsets of MHC class II molecules localize to membrane microdomains together with tetraspan proteins, the peptide editor HLA-DM and the costimulator CD86. Tetraspan microdomains differ from other membrane areas such as lipid rafts, as they enrich MHC class II molecules carrying a selected set of peptide antigens. Antigen-presenting cells deficient in tetraspan microdomains have a reduced capacity to activate CD4+ T cells. Thus, the organization of uniformly loaded peptide-MHC class II complexes in tetraspan domains may be a very early event that determines both the composition of the immunological synapse and the quality of the subsequent T helper cell response.

Meningioma within the cisterna magna without dural attachment. Case report.

A case of meningioma within the cisterna magna without dural attachment is reported. Meningiomas of the posterior fossa without dural attachment are very rare and have been classified in to: 1) intraventricular meningiomas; 2) meningiomas of the tela chorioidea; 3) meningiomas within the cisterna magna. Only two cases of meningiomas within the cisterna magna without dural attachment have been reported, one in 1923 and another in 1938. The case now reported was studied by angiography and magnetic resonance and operated with microsurgical technique. We describe neuroradiological and operative findings of this exceptional meningioma within the cisterna magna without dural attachment.

Vein of Galen malformation and infantile spasms.

Recently, there has been increasing interest in the study, characterization, and management of infantile spasms. With technological advances, it is now possible to determine a specific diagnosis on many patients with infantile spasms, thus broadening the spectrum of conditions associated with this electroclinical syndrome. We report a child with infantile spasms who also had a vascular malformation of the vein of Galen. Both clinical and electroencephalographic findings improved rapidly after endovascular treatment of the vascular anomaly, suggesting a possible association.

Concurrent trigeminal and glossopharyngeal neuralgia, hemifacial spasm and hypertension by neurovascular compression. Case report.

The case is reported of a 58 year-old man with left-sided trigeminal and glossopharyngeal neuralgia, left hemifacial spasm and arterial hypertension. Preoperative MRI angiography examination showed a massively ectatic left vertebral artery. At operation a multiple neurovascular compression, which is described, was discovered. Microvascular decompression was performed and postoperatively the patient had complete relief from the trigeminal and glossopharyngeal neuralgia, from the hemifacial spasm, and has sustained normal arterial pressure without medication. The value of MRI in diagnosing of neurovascular compression syndromes and pathophysiology of the "so called" arterial hypertension are discussed.

Intramedullary spinal cystic teratoma of the conus medullaris with caudal exophytic development: case report.

Spinal intramedullary teratoma is a rare tumor. A case of intramedullary teratoma of the conus medullaris with caudal exophytic development is presented. The patient underwent magnetic resonance imaging and then the tumor was removed surgically. This is the sixth case of intramedullary teratoma reported in the literature.