A Case of Infantile Spasms in Tuberous Sclerosis with Fetal Cardiac Tumors.

Jin,  Jang Yong; Lee,  Woo Ryoung; Suh,  Eun Sook

Case Report

Journal of the Korean Child Neurology Society 2009;17(1):90-96.
Published online May 30, 2009.

A Case of Infantile Spasms in Tuberous Sclerosis with Fetal Cardiac Tumors.

Jang Yong Jin, Woo Ryoung Lee, Eun Sook Suh

Department 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.

Key Words: Tuberous sclerosis, Rhabdomyoma, Prenatal ultrasonography, Infantile spasms