PRENATAL ULTRASOUND ABNORMALITIES IN A PATIENT WITH GENERALIZED NEUROFIBROMATOSIS TYPE-1

Citation
V. Drouin et al., PRENATAL ULTRASOUND ABNORMALITIES IN A PATIENT WITH GENERALIZED NEUROFIBROMATOSIS TYPE-1, Neuropediatrics, 28(2), 1997, pp. 120-121
Citations number
11
Categorie Soggetti
Pediatrics,"Clinical Neurology
Journal title
ISSN journal
0174304X
Volume
28
Issue
2
Year of publication
1997
Pages
120 - 121
Database
ISI
SICI code
0174-304X(1997)28:2<120:PUAIAP>2.0.ZU;2-E
Abstract
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.