Sadoun E, Adotti F, Dupard M C, Heller B, Fournet J P
l'Unité de Réanimation Pédiatrique, Centre Hospitalier Intercommunal, Montreuil/Bois.
Arch Fr Pediatr. 1988 May;45(5):349-51.
A large cardiac rhabdomyoma was discovered before delivery in a neonate, whose outcome was fatal. The baby and her mother had both cutaneous lesions suggestive of tuberous sclerosis, and the mother's sister had died from Von Hippel Lindau disease. The association of a cardiac rhabdomyoma and a tuberous sclerosis in the same patient is not uncommon, but the existence of Von Hippel Lindau disease in a member of the same family seems to be exceptional.
一名新生儿在分娩前被发现患有巨大心脏横纹肌瘤，其结局是致命的。婴儿和她的母亲都有提示结节性硬化症的皮肤病变，且母亲的妹妹死于冯·希佩尔·林道病。同一患者中同时存在心脏横纹肌瘤和结节性硬化症并不罕见，但同一家族成员中存在冯·希佩尔·林道病似乎很罕见。
