Tuberous Sclerosis Complex in children followed from neonatal period for prenatally diagnosed cardiac rhabdomyoma - two case reports
Abstract
Tuberous Sclerosis Complex (TSC) is an autosomal dominant neurocutaneous disorder with incidence of 1 : 6,000 and frequently occurring sporadic mutations in either TSC1 gene (type 1) or in TSC2 gene (type 2). Clinical manifestation is very variable with frequent formation of hamartomas and benign tumours.
TSC is a multi-system disorder characterized by defined dia-gnostic criteria - 11 major symptoms and nine minor ones. Benign cardiac tumour - rhabdomyoma - is one of the major symptoms and may be detected during prenatal period.
We present two cases of children monitored from prenatal period for multiple cardiac rhabdomyomas and suspicious TSC dia-gnosis. TSC was dia-gnosed in both children based on clinical picture and later confirmed by DNA analysis.
Both presented cases confirm the importance of follow-up by a paediatric neurologist of newborns with prenatally dia-gnosed cardiac rhabdomyoma so that early TSC dia-gnosis can be made and neurological complications, including epilepsy, monitored and treated in a timely manner.