Tuberous Sclerosis Complex – a Multidisciplinary Conundrum: Case Reports

• Published in: Medicina modernă (Bucharest, Romania) Vol. 27; no. 2; pp. 113 - 117
• Main Authors: LEFTER, Antonia, TULBA, Delia, MITU, Cristina, DANAU, Adela, OLARU, Iulia, NESTOR, Daniela, POPESCU, Bogdan Ovidiu
• Format: Journal Article
• Language: English
• Published: Media Med Publicis 26-06-2020
• Subjects: genetic; hamartoma; tuberous sclerosis complex
• ISSN: 1223-0472; 2360-2473
• DOI: 10.31689/rmm.2020.27.2.113

Introduction: Tuberous sclerosis complex (TSC) is a genetic disorder with a heterogenous clinical phenotype, with possible involvement of virtually any organ. Although recent advancement in genetics has allowed a better understanding of the pathophysiology of TSC, enabling a genetic diagnosis, TSC is primarily diagnosed on clinical grounds. Neurological manifestations amount to over 90% of people with TSC. Ensuing surveillance and treatment of TSC imply a multidisciplinary team of specialists. Case reports: We report 2 cases of TSC, both admitted to our Neurology Department on account of poor seizure control. One was diagnosed early in his infancy having a typical onset with infantile spasms and subsequent generalised seizures whereas the other was diagnosed with TSC in our department, at 56 years of age. They both also have skin and renal involvement as major clinical features. Conclusion: Recognition of the clinical hallmarks of TSC, albeit variable, is important for early diagnosis and subsequent multidisciplinary management. Neurological involvement, as illustrated in our case reports, is frequent and is largely responsible for morbidity and mortality in TSC.