Neurofibromatosis type I with large head and neurofibromas cause spinal cord compression

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder which exhibits variable clinical expression. The birth incidence of NF1 is 1 in 3000 that making NF1 becomes one of the most common genetic disorders. Genetic testing can be performed to confirm the prenatal diagnosis of NF1, but it could not predict the severity of the disease. Pregnant woman who diagnose NF1 has increased morbidity of hypertension and cerebrovascular complications. We report a case of who had family history of NF1 that born with large head and neurofibromas cause spinal cord compression.