Tha Neurofibromatosis na eas-òrdugh iom-fhillte ioma-shiostam daonna air adhbhrachadh le mùthadh neurofibromin. Bidh Neurofibromatosis ag adhbhrachadh tumhan air an t-siostam nearbhach a dh’ fhaodas fàs an àite sam bith air a’ bhodhaig. Is e Neurofibromatosis aon de na h-eas-òrdughan ginteil as cumanta agus eas-òrdugh autosomal ceannasach.
Tha comharran cumanta Neurofibromatosis a’ toirt a-steach spotan donn-dearg ann am pàirt dhathte na sùla ris an canar Lisch nodules agus neurofibromas. Faodaidh scoliosis (curvature of the spine), learning difficulties, visual problems, intellectual disability, café au lait spots agus epilepsy cuideachd.
Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein, called neurofibromin, which is needed for normal function in many human cell types.
Cafe au lait macule air fhaicinn ann an Neurofibromatosis type 1 (NF-1)
Tha Neurofibromatosis na cumha a dh’adhbhraicheas tumhan san t-siostam nearbhach agus craiceann. Tha Neurofibromatosis type 1 a’ nochdadh comharraidhean mar neurofibromas, café-au-lait spots, freckling, agus optic gliomas. Tha diagnosis stèidhichte air soidhnichean clionaigeach. Tha Neurofibromatosis type 2, air an làimh eile, air a chomharrachadh le bilateral vestibular schwannomas (VS) agus meningiomas, cuideachd a’ nochdadh gu mòr. Tha riaghladh a’ toirt a-steach sgrùdadh cunbhalach agus làimhseachadh meidigeach mar a dh’fheumar airson an dà sheòrsa neurofibromatosis. Neurofibromatosis is a neurocutaneous disorder characterized by tumors in the nervous system and skin. Neurofibromatosis types 1 and 2 are the most common and are distinct entities. Neurofibromatosis type 1, or von Recklinghausen disease, is an autosomal dominant disease. Neurofibromatosis type 1 presents with neurofibromas, cafe-au-lait macules, freckling, and optic gliomas. It is a clinical diagnosis. Neurofibromatosis type 2 (NF2) is a disease characterized by bilateral vestibular schwannomas (VS) and meningiomas. It has an autosomal dominant inheritance pattern. Treatment for neurofibromatosis types 1 and 2 is clinical monitoring and medical intervention when appropriate.
Tha comharran cumanta Neurofibromatosis a’ toirt a-steach spotan donn-dearg ann am pàirt dhathte na sùla ris an canar Lisch nodules agus neurofibromas. Faodaidh scoliosis (curvature of the spine), learning difficulties, visual problems, intellectual disability, café au lait spots agus epilepsy cuideachd.
Chan eil làimhseachadh sònraichte ann fhathast.