Two Cases of Tuberous Sclerosis with Cardiac Rhabdomyoma Diagnosed by Prenatal Ultrasound.

Oh,  Ung Geon; Ahn,  So Youn; Chun,  Jung Mi; Youn,  So Young; Lee,  Yeon Kyung; Shin,  Son Moon

Case Report

Journal of the Korean Child Neurology Society 2008;16(2):241-246.
Published online November 30, 2008.

Two Cases of Tuberous Sclerosis with Cardiac Rhabdomyoma Diagnosed by Prenatal Ultrasound.

Ung Geon Oh, So Youn Ahn, Jung Mi Chun, So Young Youn, Yeon Kyung Lee, Son Moon Shin

Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea. cjm519@medimail.co.kr

Abstract

Tuberous Sclerosis is an autosomal-dominant neurocutaneous disorder with a clinical triad of seizures, mental retardation and adenoma sebaceum, and the incidence is approximately one in 15,000 to 30,000 live births. The condition can be suspected if multiple cardiac rhabdomyomas are seen on fetal ultrasound. Tuberous sclerosis was subsequently confirmed by the brain ultrasound and MRI which revealed multiple nodules in the subcortical, subependymal or periventricular areas. We experienced two cases of antenatal tuberous sclerosis was diagnosed by ultrasound. One case was diagnosed with tuberous sclerosis at birth, the other case was confirmed with tuberous sclerosis during follow up brain ultrasound. We report these cases with brief review of related literatures.

Key Words: Tuberous sclerosis, Cardiac rhabdomyoma, Prenatal diagnosis