Prenatal detection of cardiac rhabdomyomas and cerebral lesions in a fetus with tuberous sclerosis: a case report

Abstract

Tuberous sclerosis is characterized by the development of hamartomatous lesions throughout many tissues, particularly the brain, the skin, the heart and the kidneys. The authors report a case of tuberous sclerosis suspected by prenatal ultrasound detection of cardiac rhabdomyomas and brain masses. At 20 weeks the ultrasound evaluation did not reveal any cardiac or brain lesions. Later on, at 33 weeks, multiple echogenic masses in the heart, located in the ventricular walls and interventricular septum and two small cerebral echogenic masses were diagnosed. No other abnormalities were noted. There is no previous genetics history in the family. Sequential examination revealed a discrete increase in size of the tumors; no hemodynamic or arrhythmic consequences were detected. A male fetus was delivered at term, with normal weight and Apgar score. Postnatal magnetic resonance imaging confirmed the small brain tumors. The baby had some seizures that were controlled with anti‐epileptic therapy. Cardiac tumors spontaneously decreased and their regression was confirmed, a few months later, by echocardiogram. The skin of the baby showed some de‐pigmented spots. No other abnormalities were detected namely in the kidneys. At 13 months, the child had normal growth and developed appropriately. As in other cases confirmed by literature the findings of cerebral lesions on fetal ultrasound can help in the prenatal diagnosis of tuberous sclerosis, but does not necessarily indicate a poor prognosis.