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International Journal of Advances In Case Reports

Volume 11, Issue 1, 2024
Mcmed International
International Journal of Advances In Case Reports
Issn
XXX-XXXX (Print), 2349 - 8005 (Online)
Frequency
bi-annual
Email
editorijacr@mcmed.us
Journal Home page
http://mcmed.us/about/ijacr
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Abstract
Title
NEUROFIBROMATOSIS TYPE I: A CASE REPORT
Author
Danielius Serapinas*
Email
dserapinas@gmail.com
keyword
Neurofibromatosis, gene, diagnosis.
Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease that is characterized by the presence of multiple neurofibromas, café-au-lait spots and iris hamartomas. It is well established that the incidence of tumors in patients with NF1 is high compared with the normal population and that the majority of the tumors are non-epithelial neoplasms, including neurofibromas, malignant peripheral nerve sheath tumors, gliomas and leukemia. NF1 is underdiagnozed condition in Easter European countries as well in Lithuania. We report a family with type 1 neurofibromatosis cases. The diagnosis NF-1 was made according to the presence of diagnostic criteria of the National Institute of Health Consensus Development Conference.
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