[Bourneville tuberous sclerosis manifested by prenatal finding of intracardiac tumors]. / Sclérose tubéreuse de Bourneville à révélation anté-néonatale par tumeurs intracardiaques.
Pediatrie
; 47(4): 279-84, 1992.
Article
in Fr
| MEDLINE
| ID: mdl-1329012
ABSTRACT
Neonatal cardiac rhabdomyoma is the most frequent cardiac tumour in the newborn, and a classical way to diagnose tuberous sclerosis (Bourneville's disease). The authors report 4 cases, including 2 antenatal diagnosis 2 of them had arrhythmia, one with asystolic cardiac failure and the other with cyanosis due to a right-left shunt; the tumour was asymptomatic in the 2 others. The 4 babies had clinical and radiological neurologic signs of tuberous sclerosis, initially or during the course of the disease. The authors discuss the polymorphism of the clinical presentation of tuberous sclerosis in the newborn. Although tuberous sclerosis is transmitted through a dominant gene, the expressivity and the penetrance are very variable. The authors discuss the examination and investigation of at risk family members. The genetic counsel is difficult but very important because of the poor neurologic prognosis of the disease.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rhabdomyoma
/
Tuberous Sclerosis
/
Heart Neoplasms
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Language:
Fr
Journal:
Pediatrie
Year:
1992
Document type:
Article
Affiliation country:
France