Neurofibromatosis Type 1 with Massive Ventricular Polyposis: First Report in the Medical Literature.
- Georgi Tchernev,
- Anastasiya Atanasova Chokoeva,
- Uwe Wollina,
- Torello Lotti,
- Georgi Konstantinov Maximov,
- Ilia Lozev
Open Access Maced J Med Sci 2018 Jan 1;6(1):71-73. Epub 2018 Jan 1.
Medical Institute of Ministry of Interior, Department of General, Vascular and Abdominal Surgery, General Skobelev 79, 1606 Sofia, Bulgaria.
Background: Neurofibromatosis type 1 () is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. is caused by mutations in the gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders. Read More