We describe a patient: with an unusual neonatal disseminated form of n
eurofibromatosis (NF1). Prenatal ultrasound studies, at 35 weeks of ge
station, revealed ambiguous external genitalia, an increased biparieta
l diameter and a decreased growth of long bones, Postnatal examination
displayed generalized neurofibromatosis, with perineal, thoracic and
spinal cord invasion by tumors. Spinal cord compression was responsibl
e for paraparesis, The child died of a pulmonary infection at five yea
rs of age, No previous report of such prenatal abnormalities has been
described, Genetic counselling is difficult because of the variable ex
pression of the illness.