ArticleFrontiers in genetics2026
Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder. Despite established genetic causes, missed or late diagnosis remains common in familial cases. This study reports a familial case of TSC to highlight the diagnostic challenges and evaluate the clinical efficacy of everolimus in managing cutaneous and neurologic symptoms. Case presentation: The patient presented with refractory seizures, facial angiofibromas, and intellectual disability. Sequencing analysis revealed a mutation in the Conclusion: 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.
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