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Войти в исследования "Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".
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Spanou Maria, Skoutelis Vasileios, Dimitriadis Zacharias, Kokkinou Eleftheria, Kosma Konstantina, Vorgia Pelagia, Roka Kleoniki, Niotakis Georgios, Pelekouda Polyxeni, Sidira Christina, Kyriazi Maria, Tsimakidi Chrysanthi, Kapetanakis Minas, Mprantzos Thomas, Mitrakos Anastasios, Mouskou Stella, Dragoumi Pinelopi, Voudris Konstantinos, Kotsalis Charalambos, Pavlou Evangelos, Tzetis Maria, Pons Roser, Vartzelis George, Papavasileiou Antigone, Evangeliou Athanasios, Youroukos Sotirios, Vlahakos Demetrios, Zafeiriou Dimitrios, Dinopoulos Argirios
Аннотация
METHODS: A descriptive analysis was conducted on 115 TSC patients diagnosed based on the latest criteria. Clinical, genetic, and treatment-related data were analysed, with a particular focus on neurological, renal, cardiac, dermatological, and pulmonary manifestations, as well as rare or atypical disease presentations.
RESULTS: The median age at diagnosis was 1.2 years (range: 0-43 years). Epilepsy was the most frequent initial symptom (70.4 %), with drug-resistant epilepsy (DRE) affecting 39.5 % of cases. Intellectual disability, autism spectrum disorder, and behavioral issues correlated significantly with early seizure onset and TSC2 variants. Common manifestations include cortical tubers (93.9 %), subependymal nodules (92.2 %), angiomyolipomas (48.7 %), and cardiac rhabdomyoma (33 %). Notably, we report several rare manifestations, including high-grade glioma in a pediatric patient, diffuse lipomatosis, pancreatic neuroendocrine tumours, rectal polyps, and erythema nodosum presented in a patient on everolimus therapy, further highlighting the systemic complexity and malignancy risks in TSC.
CONCLUSIONS: Our study provides novel epidemiological and clinical data on TSC in Greece, reinforcing genotype-phenotype correlations and expanding the spectrum of rare manifestations. These findings emphasise the need for lifelong surveillance, multidisciplinary management, and early detection strategies to mitigate long-term complications. This study also contributes to the broader understanding of TSC by documenting atypical presentations that may inform future clinical guidelines and patient care strategies.