Destuynder R, Menget A, Fromentin C, Burguet A, Noir A, Bernard Y, Feldmann M, Maucler Jolly R
Service de pédiatrie, hôpital Saint-Jacques, Besançon, France.
Pediatrie. 1992;47(4):279-84.
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.
新生儿心脏横纹肌瘤是新生儿中最常见的心脏肿瘤，也是诊断结节性硬化症（博恩维尔病）的经典方法。作者报告了4例病例，其中2例为产前诊断：2例有心律失常，1例有心脏收缩期心力衰竭，另1例因右向左分流出现青紫；另外2例肿瘤无症状。这4名婴儿在疾病初期或病程中均有结节性硬化症的临床和放射学神经学体征。作者讨论了新生儿结节性硬化症临床表现的多态性。虽然结节性硬化症是通过显性基因遗传的，但其表达性和外显率变化很大。作者讨论了对高危家庭成员的检查和调查。由于该疾病神经学预后较差，遗传咨询虽困难但非常重要。
