J Korean Child Neurol Soc.
2009 May;17(1):90-96.
A Case of Infantile Spasms in Tuberous Sclerosis with Fetal Cardiac Tumors
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea. essuh@hosp.sch.ac.kr
Abstract
- Tuberous sclerosis(TS), a type of neurocutaneous syndrome, is inherited in an autosomal dominant manner. Approximately 60% of children with TS have rhabdomyomas of the heart, and 40% of fetuses in whom rhabdomyomas are detected by a prenatal ultrasonography eventually end up with TS. Therefore, when multiple cardiac rhabdomyomas are detected by a fetal ultrasonography, TS should be suspected and further examination should be considered after birth. Infantile spasms is a common type of seizure among young children with TS. We describe a patient with TS who showed cardiac tumors on a fetal ultrasound. Also, hypomelanotic macules, retinal tumors, brain cortical tubers, nodules in subependymal regions, and infantile spasms was detected after birth.
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