Neurofibromatosis centralQ85.0
Synonym(s)
Neurofibromatosis type II
DefinitionThis section has been translated automatically.
Leading clinical sign is uni- or bilateral acoustic neuromas (hearing loss often as first symptom at 20-30 years), which occur in almost all gene carriers; café-au-lait spots are found in about 50% of cases, neurofibromas in about 20% of cases.
Notice. No Lisch nodules as an important differential diagnostic sign to differentiate peripheral neurofibromatosis.
LiteratureThis section has been translated automatically.
- Hattori S et al (1996) [Heterogeneity of GTPase-activating proteins for Ras in the regulation of Ras signal transduction pathway. Yakugaku Zasshi 116: 21-38.
- Ko JM et al (2013) Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. Pediatr Neurol 48:447-453.
- Pećina-Šlaus N (2013) Merlin, the NF2 gene product. Pathol Oncol Res 19:365-373.
- Sabbagh A et al. (2013) NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat 34:1510-1518.