2020 Volume 56 Issue 2 Pages 363-367
Tuberous sclerosis（TSC）is a neurocutaneous syndrome that causes hamartomatous lesions and tumorigenesis in systemic organs due to cellular proliferation. We report a case involving an extremely low birth weight infant at a gestational age of 25 weeks and 5 days; the infant weighed 759 g at birth who complicated with tuberous sclerosis complex（TSC）. The ultrasonography after birth demonstrated intracardiac tumor. The tumor was suspected to be a rhabdomyoma because the tumor regressed spontaneously after a temporary increase in size after birth. Moreover, he presented with seizures and subsequently was diagnosed with West syndrome（WS）. The seizures due to WS improved with adrenocorticotropic hormone（ACTH）therapy. Although early diagnosis of TSC is important for postnatal systemic management and detection of complications associated with TSC, diagnosis of TSC can be difficult because of premature birth. We hope to accumulate more reports on TSC in preterm infants and data on the efficacy or side effects of new therapeutic agents for complications associated with TSC.
