J Korean Child Neurol Soc.  2008 Nov;16(2):241-246.

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

• Oh UG
• Ahn SY
• Chun JM
• Youn SY
• Lee YK
• Shin SM

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.

Keyword

Tuberous sclerosis; Cardiac rhabdomyoma; Prenatal diagnosis

MeSH Terms

Brain
Follow-Up Studies
Incidence
Intellectual Disability
Live Birth
Neurocutaneous Syndromes
Parturition
Prenatal Diagnosis
Rhabdomyoma
Seizures
Tuberous Sclerosis