1366: Diagnosis of Tuberous Sclerosis: A Case Report of Rhabdomyoma

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a broad phenotypic spectrum that includes seizures, mental retardation, cardiac tumors(rhabdomyoma), renal dysfunction and dermatological abnormalities. TSC is caused by mutations affecting either of the tumor-suppressor genes TSC1 and TSC2. A 36-year-old, pregnant woman with no remarkable personal or family history was found with a suspected fetal cardiac anomaly since 36 weeks gestational age in the routine antepartal examination. Ultrasonographic examination of the fetus revealed multiple solid masses consistent with rhabdomyoma in the ventricular septum and ventricular wall. No other anomalies could be detected. After birth, we sent the blood samples of the father, the mother and the baby to check for TSC gene. The father and the son have the same gene mutation at TSC1 exon 17 c.2208_2208+1 insCCATG. In the pediatric clinical Follow-up, the size of the heart masses decreased slightly 3 months later. CT revealed no prominent neurologic and other organs' lesion. Unfortunately, general tonic clonic seizure has been noted since 1+ months old. Regular medical treatment with luminal has been prescribed but his seizure is not well controlled. The prenatal diagnosis of tuberous sclerosis is suspected at fetal ultrasound on the discovery of multiple cardiac rhabdomyomas (CRs). The postnatal gene analysis can be confirmed the cause of the fetal abnormality. Further postnatal follow-up have to be arranged to survey the organ involvement such as CNS and renal lesions.