Akademik Veri Yönetim Sistemi
16th European Paediatric Neurology Society Congress, Munich, Almanya, 8 - 12 Temmuz 2025, ss.389, (Özet Bildiri)
Objectives: Tubulinopathies are a relatively newly defined family of neurological disorders caused by mutations in the genes encoding tubulins and microtubule-associated proteins that result in cortical developmental malformations. This group of disorders is characterized by microcephaly, developmental delay, intellectual disability and epilepsy. Epilepsy can manifest with different semiology and severity. The aim of this study was to present a large case series of tubulinopathies from a multicenter dataset and to raise awareness of this condition. Methods: This study is designed as a multicenter retrospective case series. Results: The study included 14 children (4 females) with a mean age of 7.3 ± 5 years (range: 1.2- 16.3). The mean age at diagnosis was 4.6 ± 4.2 years (range: 0.5-12.3), with a delay in diagnosis ranging from 3 to 106 months after initial presentation. Ten pathogenic variants were identified in the following genes TUBA1A (alpha), TUBB2A/B, TUBB3, TUBB4A (beta), TUBG1 (gamma) and TUBGCP2 (microtubule-associated protein). Almost all patients had developmental delay of varying severity, and epilepsy was observed in 10 patients (71.4%). The age of epilepsy onset ranged from 3 months to 9 years, with a wide range of seizure semiologies, including focal/generalised motor and/or non-motor seizures. Response to antiseizure medication was variable, with seizure control achieved in seven patients and drug-resistant epilepsy in three. The most common neurological findings included microcephaly, axial hypotonia, appendicular spasticity and hyperactive deep tendon reflexes. In addition, four patients (28.6%) had movement disorders. Brain MRI findings commonly included corpus callosum agenesis/dysgenesis (10/12), lissencephaly (5/12), basal ganglia abnormalities (5/12), cerebellar atrophy/hypoplasia (5/12), and abnormal sulcal/gyral morphology (4/12). EEG abnormalities were observed in 10 patients, including hypsarrhythmia, sleep-activated spike-wave patterns, and generalized or multifocal epileptic anomalies. Conclusions: Tubulinopathies are a heterogeneous group of disorders with broad clinical, radiological, and EEG findings. Refractory seizures represent a significant comorbidity in this condition. However, due to the substantial phenotypic diversity, there is no consensus on disease management. Further comprehensive studies are needed to enhance understanding and develop effective management strategies.