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2015 OCT 24 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Researchers detail new data in Nervous System Diseases and Conditions. According to [...]

The differential diagnosis of a lung mass in a neurofibromatosis patient includes benign or malignant neurogenic neoplasm. Benign neurogenic neoplasms can transform to malignant and since this transformation is a major cause of mortality, the prognosis will depend on early detection. Computed tomography scans, magnetic resonance imaging and positron emission tomography are not able to differentiate benign from malignant neurogenic neoplasm. Needle biopsy has poor sensitivity and malignant neurogenic neoplasm can be misinterpreted as benign. We address these issues in the case of a 48 year old man with neurofibromatosis type 1 who incidentally was found to have a right apex lung mass. The needle biopsy showed spindle cell lesion of probable neurogenic origin. Given the concern about the adequacy of needle biopsy in providing an accurate diagnosis, a positron emission tomography scan was done and it showed high uptake within the lesion. The mass was resected and confirmed as neurofibroma, Neurofibromatosis is a disorder of neural crest cells such Schwann cells, melanocytes, and endoneurial fibroblasts. These cell types proliferate excessively throughout the body forming neoplasms(1). The neoplasms may be harmless [...]

Neurofibromatosis type II is a phakomatoses with autosomal dominant inheritance characterized by intra-cranial schwannomas, meningiomas and ependymomas with associated peripheral nerve sheath tumors. Incidence is 1 in 30-40,000. Patients present with hearing loss, seizures, gait disturbances. Case of NF-II in a 25-year old girl having bilateral acoustic schwannomas, meningiomas and spinal schwannomas is presented here. Radiographs, C.T. Scan, MRI were performed and presumptive diagnosis of NF-II was considered. Keywords: Neurofibromatosis-II | Schwannomas | Meningiomas, Introduction Neurofibromatosis type II (syn Acoustic neurofibromatosis, Bilateral vestibular schwannoma disease, Gardner type neurofibroma, Wishart type neurofibroma) is classified under the phakomatoses though cutaneous manifestations are uncommon in the type [...]

Neurofibromatosis type 2(NF-2) is an often devastating autosomal dominant disorder which, until relatively recently, was confusedwith its more common namesake neurofibromatosis type 1. NF2 is a distinct disease which must be separated clinically & radiologically from neurofibromatosis 1. Subjectswho inherit a mutated allele of the NF2 gene inevitably developschwannomas, affecting particularly the superior vestibular branchof the 8th cranial nerve, usually bilaterally. Meningiomas andother benign central nervous system tumours such as ependymomasare other common features. Much of the morbidity from these tumoursresults from their treatment. As a classicaltumour suppressor, inactivation of the NF2 gene product, merlin/schwannomin,leads to the development of both NF2 associated and sporadic tumours.Merlin/schwannomin associates with proteins at the cell cytoskeletonnear the plasma membrane and it inhibits cell proliferation, adhesion,andmigration. Keywords: Neurofibromatosis type 2 | MISME syndrome | Schwannomatosis, Introduction Neurofibromatosis type 2, formerly called central neurofibromatosis or Schwannomatosis, presents with Multiple inherited Schwannomas, Meningiomas, Ependymomas (MISME syndrome). In 1998, National institute of health (NIH) devised criteria for the [...]