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KMID : 0391520090170010090
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Journal of the Korean Child Neurology Society
2009 Volume.17 No. 1 p.90 ~ p.96
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A Case of Infantile Spasms in Tuberous Sclerosis with Fetal Cardiac Tumors
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Jin Jang-Yong
Lee Woo-Ryoung
Suh Eun-Sook
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Abstract
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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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KEYWORD
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Tuberous sclerosis, Rhabdomyoma, Prenatal ultrasonography, Infantile spasms
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