Perinatal (fetal and neonatal) tuberous sclerosis: a review.

Abstract

Tuberous sclerosis (TSC) is an autosomal-dominant disorder that presents with highly variable clinical manifestations including seizures, mental retardation, skin lesions, and hamartomas affecting multiple organ systems such as the heart, brain, eye, and kidney. A 42-year retrospective review of 70 patients consisting of 43 fetuses and 27 neonates with TSC were analyzed. There was a 16% positive family history for the disease. Obvious signs are present in the perinatal period. Cardiac rhabdomyoma(s) detected on routine antenatal sonography, arrhythmias, cerebral lesions, hydrops, and stillbirth are the major presenting findings in the fetus, whereas respiratory distress, arrhythmias, murmurs, and cardiomegaly are the main signs initially in the neonate. Cardiac rhabdomyomas comprised 32.8% of the TSC pathological findings; those of central nervous system origin, 47.5%; and renal cystic disease, 13.2%. Skin lesions and retinal hamartomas were noted rarely at birth. Of the 15 survivors, 87% developed a seizure disorder; 33%, residual cardiac rhabdomyomas; and 27%, mental retardation. The survival rates of patients diagnosed antenatally was practically the same as for those after birth, 21% and 22%, respectively. The overall survival was low, 15/70 or 21%. When TSC occurs in the perinatal period, it is associated with a high incidence of morbidity and mortality.