A case of neurofibromatosis type 1 with cerebral venous sinus thrombosis due to iron deficiency anemia associated with gastrointestinal stromal tumor

Abstract

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by multisystem manifestations, including cutaneous findings, tumors, and vascular abnormalities. A 63-year-old woman developed headache and vertigo. After 5 days, she was admitted to our hospital due to seizures. A CT scan showed subcortical hemorrhage in the right temporal lobe and cerebral venous thrombosis (CVT) in the right transverse venous sinus. Laboratory tests revealed severe anemia, and a gastrointestinal stromal tumor (GIST) was diagnosed by small-intestinal double-balloon endoscopy. In addition, physical examination revealed multiple small soft masses on the skin all over the body, leading to a diagnosis of NF-1. Anemia is a risk factor for cerebral venous thrombosis, and close examination for gastrointestinal bleeding is important when thrombosis complicates NF-1.