Perinatal neurofibromatosis: two case reports and review of the literature

Neurofibromatosis-1 (NF-1) is an autosomal-dominant genetic disorder with many different manifestations. Some may have evidence of the disease at birth. A 66-year (1942 to 2008) retrospective review of 36 patients including 7 fetuses and 29 neonates with NF-1 was performed. Only patients with NF-1 lesions detected before birth by imaging or noted in the first month of life were entered into the review. There was a strongly positive family history of the disease of 70%. The most common presenting findings in the fetus were hydrops, macrocephaly, and thickened neck soft tissues and those in the neonate were café au lait macules, skin nodules, and buphthalmos. Survivors developed serious sequelae (e.g., progressive growth of neurofibromas within the neck and mediastinum leading to increasing airway obstruction and death; an enlarging, proptotic, and glaucomatous eye; and occurrence of brain and malignant nerve sheath tumors). Congenital generalized (disseminated) neurofibromatosis was associated with a poor prognosis, with a mortality rate of 92%. Survival rates for patients detected before and after birth were 28% and 62%, respectively. The overall survival was 20/36 or 56%.