Journal of the Korean Child Neurology Society 2009;17(1):90-96

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

Jang Yong JIN 1 ; Woo Ryoung LEE ; Eun Sook SUH

Affiliations

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Keywords

Tuberous sclerosis; Rhabdomyoma; Prenatal ultrasonography; Infantile spasms

Country

Republic of Korea

Language

Korean

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.