Abstract:

Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic diseases of the nervous system, which occurs predominantly in children. It is a multi-system damage caused by genetic defects that cause abnormal development of neural crest cells. The penetrance of NF1 is almost 100%, and the main clinical features are cafe-au-lait spots on the skin and multiple neurofibromas in peripheral nerves. NF1 can lead to intracranial neoplastic lesions, which can be divided into low grade tumors, high grade tumors and tumor-like lesions according to pathology. Most intracranial tumors with NF1 are low grade tumors, and optic pathway gliomas are the most universal, followed by brainstem gliomas, but other types of low grade tumors can also occur on other sites. High grade tumors are uncommon. Although tumor-like lesions/ unidentified bright objects are not tumors, they are the most widespread intracranial abnormalities with partial tumor nature in NF1 children. These neoplastic lesions can be treated by observation, surgery, chemotherapy, radiotherapy, targeted therapy, etc. The best treatment for different lesions is different, and their prognosis is also distinct. At present, the treatment of intracranial neoplastic lesions of NF1 in children is still controversial. This article reviews the characteristics and treatment progress of this disease, aiming to improve the public′s awareness of NF1 neoplastic lesions, provide professional plans of diagnosis and treatment, and finally promote the perfect neurosurgical therapy of NF1 patients.

Key words: neurofibromatosis 1 (NF1), intracranial neoplastic lesion, children, treatment