Complete surgical excision of intramedullary schwannoma at the craniovertebral junction in neurofibromatosis type-2

Siddiqui, AA; Shah, AA

doi:10.1080/02688690410001681109

Cited by 7 publications

(1 citation statement)

References 8 publications

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“…10–13,105,106,124 Diffuse astrocytomas typically are ill-defined T2-weighted hyperintense lesions that do not enhance on MRI and occupy a more eccentric location within the spinal cord than do ependymomas. Pilocytic astrocytomas and intramedullary schwannomas enhance on T1-weighted MRI and to distinguish between tumours based on imaging can be difficult.…”

Section: Neurological Manifestationsmentioning

confidence: 99%

Neurofibromatosis type 2

et al. 2009

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Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25 000 livebirths and nearly 100% penetrance by 60 years of age. Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours). Optimum treatment is multidisciplinary because of the complexities associated with management of the multiple, progressive, and protean lesions associated with the disorder. We review the molecular pathogenesis, genetics, clinical findings, and management strategies for neurofibromatosis type 2.

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Section: Neurological Manifestationsmentioning

confidence: 99%

Neurofibromatosis type 2

et al. 2009

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Intramedullary Schwannoma Associated with Neurofibromatosis

Eltorai

2016

Rare Diseases and Syndromes of the Spinal Cord

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Spinal intramedullary schwannomas—report of a case and extensive review of the literature

et al. 2020

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Intramedullary schwannomas (IMS) represent exceptional rare pathologies. They commonly present as solitary lesions; only five cases of multiple IMS have been described so far. Here, we report the sixth case of a woman with multiple IMS. Additionally, we performed the first complete systematic review of the literature for all cases reporting IMS. We performed a systematic review of the literature in PubMed, EMBASE and Cochrane Central Register of Controlled (CENTRAL) to retrieve all relevant studies and case reports on IMS. In a second step, we analysed all reported studies with respect to additional cases, which were not identified through the database search. Studies published in other languages than English were included. One hundred nineteen studies including 165 reported cases were included. In only five cases, the patients harboured more than one IMS. Gender ratio showed a ratio of nearly 3:2 (male:female); mean age of disease presentation was 40.2 years; 11 patients suffered from neurofibromatosis (NF) type 1 or 2 (6.6%). IMS are rare. Our first systematic review on this pathology revealed 166 cases, including the here reported case of multiple IMS. Our review offers a basis for further investigation on this disease.

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Complete surgical excision of intramedullary schwannoma at the craniovertebral junction in neurofibromatosis type-2

Cited by 7 publications

References 8 publications

Neurofibromatosis type 2

Neurofibromatosis type 2

Intramedullary Schwannoma Associated with Neurofibromatosis

Spinal intramedullary schwannomas—report of a case and extensive review of the literature

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