Prenatal ultrasound abnormalities in a patient with generalized neurofibromatosis type 1.
We describe a patient with an unusual neonatal disseminated form of neurofibromatosis (NF1). 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.
Drouin
V
V
Department of Pediatrics, CHRU, Rouen, France.
Marret
S
S
Petitcolas
J
J
Eurin
D
D
Vannier
J P
JP
Fessard
C
C
Tron
P
P
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities*; D009361:Neoplasm Invasiveness; D009456:Neurofibromatosis 1 / Q000000981:diagnostic imaging* / Q000473:pathology; D011247:Pregnancy; D016216:Ultrasonography, Prenatal