The Turkish Journal of Pediatrics 2015 , Vol 57 , Num 2
Simultaneous Presentation of Malignant Peripheral Nerve Sheath Tumor and Moyamoya Disease Associated with Neurofibromatosis Type 1 in a Child
Department of Pediatrics1, Biomedical Research Institute2, Chonbuk National University Medical School, Jeonju, Korea.
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. Keywords : neurofibromatosis type 1, malignant peripheral nerve sheath tumors, moyamoya disease.
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