title: Simultaneous presentation of malignant peripheral nerve sheath tumor and moyamoya disease associated with neurofibromatosis type 1 in a child.
abstract: Neurofibromatosis type 1 (NF-1) is a rare hereditary disorder, which is inherited as an autosomal dominant trait. It is characterized by multiple caféau- lait spots of the skin, benign cutaneous neurofibromas, skeletal dysplasia and learning disability. The association of NF-1 with benign and malignant tumors is well established. The lifetime risk of patients with NF-1 developing malignant peripheral nerve sheath tumors (MPNSTs) has been estimated to be 8-13%. Such tumors can develop in any part of the body, but their occurrence in the gastrointestinal tract is rare. Patients with NF-1 have a wide spectrum of vascular abnormalities. Cerebrovascular lesions have been found in approximately 2.5% of children with NF1. We encountered a case of NF-1 with MPNSTs in the gastrointestinal tract and moyamoya disease.
authors.affiliation: Department of Pediatrics, Chonbuk National University Medical School, Jeonju, Korea. hwaph@jbnu.chonbuk.ac.kr.
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Yoo
authors.forename: Sun Mi
authors.initials: SM
authors.lastname: Hwang
authors.forename: Min Kyung
authors.initials: MK
authors.lastname: Lee
authors.forename: Dae Sun
authors.initials: DS
authors.lastname: Jo
authors.forename: Pyoung Han
authors.initials: PH
authors.lastname: Hwang
mesh_terms: D000293:Adolescent; D005770:Gastrointestinal Neoplasms / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D008297:Male; D009072:Moyamoya Disease / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D009442:Neurilemmoma / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000628:therapy