Prenatal Ultrasound Abnormalities in a Patient with Generalized Neurofibromatosis Type 1

Abstract

We describe a patient with an unusual neonatal disseminated form of neurofibromatosis (NFl). Prenatal ultrasound studies, at 35 weeks of gestation, revealed ambiguous external genitalia, an increased biparietal 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 responsible for paraparesis. The child died of a pulmonary infection at five years of age. No previous report of such prenatal abnormalities has been described. Genetic counselling is difficult because of the variable expression of the illness.

Key words

Neurofibromatosis - Prenatal diagnosis - Genetic counselling - Pseudohermaphrodism