A Case of Infantile Spasms in Tuberous Sclerosis with Fetal Cardiac Tumors.
- Author:
Jang Yong JIN
1
;
Woo Ryoung LEE
;
Eun Sook SUH
Author Information
1. Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea. essuh@hosp.sch.ac.kr
- Publication Type:Case Report
- Keywords:
Tuberous sclerosis;
Rhabdomyoma;
Prenatal ultrasonography;
Infantile spasms
- MeSH:
Brain;
Child;
Fetus;
Heart;
Heart Neoplasms;
Humans;
Infant;
Infant, Newborn;
Neurocutaneous Syndromes;
Parturition;
Retinal Neoplasms;
Rhabdomyoma;
Seizures;
Spasms, Infantile;
Tuberous Sclerosis;
Ultrasonography, Prenatal
- From:
Journal of the Korean Child Neurology Society
2009;17(1):90-96
- CountryRepublic 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.
