Neurofibromatosis von Recklinghausen type I (NF1) - clinical picture in childhood, diagnosis and therapy
Abstract
Neurofibromatosis von Recklinghausen type I (neurofibromatosis type 1, NF1) is a multisystem, autosomal dominant hereditary neurocutaneous disease with a prevalence of 1 : 2 000-3 000 in the population, characterized by involvement of the skin, central and peripheral nervous systems, eye, bones and vascular walls. The disease is caused by a the mutation in the NF1 gene (17q11.2) and a change in the formation of neurofibromin, which is a negative regulator of the metabolic pathway of RAS, thus contributing to the development of tumor processes.
Central nervous system tumors are primarily low-grade gliomas of the visual pathway and are often asymptomatic. Different types of neurofibromas occur in the peripheral nervous system.
NF1 treatment is primarily symptomatic. More recently, treatment with the MEK-inhibitors selumetinib and trametinib has appeared which though now focused on plexiform neurofibromas, promises a wider use.
In preschool and school children there is a significant occurrence of speech development disorders, learning disabilities, ADHD syndrome, short stature, clumsiness in fine motor skills, scoliosis and flat feet. The possibility of molecular genetic testing and genetic counseling is important.