Moyamoya syndrome associated with neurofibromatosis type 1 (NF1): a case report of a pathogenic NF1 mutation

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder caused by pathogenic mutations in the NF1 gene. It is characterized by significant clinical heterogeneity, involving the central nervous system, skin, and skeletal system, with a risk of tumor malignant transformation. This paper reports a 15-year-old girl comorbid with hypertension, NF1, cerebral infarction, and moyamoya syndrome, and confirms the presence of a newly identified pathogenic variant in her NF1 gene. This case indicates that neurofibromatosis type 1 complicated with moyamoya syndrome can occur in adolescents and children. For NF1 patients with comorbid hypertension, routine head imaging examinations should be completed to detect potential lesions early and improve prognosis.