Neonatal cardiac rhabdomyoma and phakomatosis

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.