Clinical findings of the phakomatoses: Neurofibromatosis
نویسندگان
چکیده
منابع مشابه
Plexiform Neurofibromatosis of the Mediastinum: CT Findings
Purpose: To evaluate the findings and the role of CT in plexiform neurofibromatosis of the mediastinum. Materials and Methods: We retropectively reviewed the CT scans of five patients with plexiform neurofibromatosis of the mediastinum. The CT scans were reviewed with attention to the distribution of the lesions, appearance and attenuation of mediastinal lesions, enhancement pattern after intra...
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OBJECTIVE To gain insight into the pathogenesis of neurofibromatosis type 2 (NF2) by investigating the ocular manifestations of this disease. METHODS Using standard histologic techniques, immunohistochemistry, and electron microscopy, we described the ocular pathologic findings of a 34-year-old woman who died from complications of NF2. RESULTS We identified 3 types of NF2-associated lesions...
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Neurofibromatosis type 1 and type 2, affecting both children and adults, often results in devastating complications. The rapid unravelling of the genetic underpinnings of these unique disorders has led to the development of novel therapies, especially molecular-targeted therapies. To facilitate clinical trial development, the Neurofibromatosis Clinical Trial Consortium (NFCTC) was established i...
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Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical man...
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Neurofibromatosis type 2 is an inherited autosomal dominant syndrome, characterized by multiple neoplasms of the central and peripheral nervous system associated with ocular abnormalities. The most common tumor associated with the disease is the vestibulocochlear schwannoma (VIII cranial nerve), and as many as 10% of patients with this tumor have neurofibromatosis type 2. In this report we aim ...
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ژورنال
عنوان ژورنال: Neurology
سال: 2006
ISSN: 0028-3878,1526-632X
DOI: 10.1212/01.wnl.0000203645.25173.70