Neurofibromatosis Type 1 with Spinal Arteriovenous Malformation

ABSTRACT

Neurofibromatosis is a heterogenous hereditary disease with autosomal dominant transmission divided into two distinct types on the basis of genetic and clinical characteristics. Cervical vessels are rarely involved in neurofibromatosis type 1 (von Recklinghausen's disease). In the present paper, we report a 32-year-old female patient of neurofibromatosis type 1 with spinal arteriovenous malformation (AVM). She suffered from posterior neck pain and paresthesia on her right 3rd, 4th, and 5th fingers for a half a year. MRI showed ectasia of the right dural sac and signal void tortuous tubular structures at the cervical level. The right vertebral artery fed this cervical AVM in angiography.