BRIEF RESEARCH REPORT article
Front. Genet.
Sec. Applied Genetic Epidemiology
Late Diagnosis and Effective Everolimus Treatment in a Familial Case of Tuberous Sclerosis Complex: A Case Report)
Provisionally accepted
- 1Qujing Normal University, Qujing, China
- 2920th Hospital of People's Liberation Army Joint Logistic Support Force, Kunming, China
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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 TSC2 gene in both the patient and the mother: c.848+281 (IVS9) C > T. No mutation at this site was detected in the father. Following the diagnosis, the patient received treatment with everolimus. A significant reduction in seizure frequency and improvement in facial angiofibromas were observed during the follow-up period. Conclusions 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.
Keywords: angiofibromas, Autosomal dominant inheritance, Everolimus (6442177), TSC gene, Tuberous Sclerosis
Received: 22 Dec 2025; Accepted: 12 Feb 2026.
Copyright: © 2026 Dai, Duan, Di, Feng, Cui and Lv. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Tao Lv
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