Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report

A heterozygous splicing mutation in the TSC2 gene was identified, confirming the diagnosis of familial TSC. This case underscores the importance of genetic testing in suspected cases to prevent late diagnosis. Furthermore, our findings support the effectiveness of everolimus as a therapeutic option for alleviating TSC-associated neurological and cutaneous manifestations.