Туберозна склероза комплекс-приказ на случај

Abstract

Tuberous sclerosis (TSC) is rare, autosomal dominant, multi-system disorder (that couses benign tumours to grow in the brain and on other vital organs such as heart, eyes, kidney, lung and skin). TSC is manifested by seizures, developmental delay, behaviour problems, skin lesions, lung and kidney disease. Mutations of 2 genes TSCI and TSC2, have been determined as cause of TSC. The diagnosis of TSC is suspected at fetal ultrasound on the discovery of cardiac rhabdomyomas (CRs). CRs typically develop in utero and undergo spontaneous regression during first years of life. We reported one case with TSC with first ultrasound detection of cardiac rhabdomyomas. The pregnancy was continued and the child was developing well during first 6 months. When she was 6 month old, seizures started and were successfully treated with Valproic acid (VPA) and Vigabatrin (VGB). The diagnosis was confirmed with clinical manifestation, CT and MRI findings.