Identification of a novel NF1 deletion variant in a Taiwanese boy with neurofibromatosis type 1-associated Moyamoya syndrome.

Abstract

The clinical significance of vasculopathy in patients with neurofibromatosis type 1 (NF1) has not been clearly elucidate due to its asymptomatic presentation and undetermined frequency.1 Compared with frequently affected renal arteries, NF1-associated Moyamoya syndrome (MMS), which is characterized by progressive intracranial artery narrowing and small telangiectatic vessel development, accounts for merely 0.6% of cases.2 Nevertheless, undiagnosed MMS results in markedly high risk of ischemic and hemorrhagic stroke in young adults.