Akademik Veri Yönetim Sistemi
16th European Paediatric Neurology Society Congress, Munich, Almanya, 8 - 12 Temmuz 2025, ss.661, (Özet Bildiri)
Objectives Infantile epileptic spasm syndrome (IESS) is one of the most common developmental and epileptic encephalopathies (DEE) in infancy and childhood. In this syndrome, epileptic spasms, hypsarrhythmia pattern on electroencephalography and psychomotor developmental delay may be observed. In this study, we report vigabatrin toxicity in an IESS patient with a pathogenic mutation in the PIGA gene. Methods This presentation is organized as a case report. Results A 1-month-old male who was born at term with a birth weight of 3360 grams presented with hypotonia, feeding difficulties and seizures in the form of flexor spasms in clusters. His two siblings had a history of intrauterine death. Physical examination revealed microcephaly, high palate, micrognathia, dysmorphic facial appearance and central hypotonia. The patient had no head control, no object tracking and was unable to make eye contact. Electroencephalography revealed findings of modified hypsarrhythmia. Brain MRI showed mild bilateral ventricular enlargement and thin corpus callosum. During vigabatrin treatment (70 mg/kg/day), diffusion restriction at the bilateral globus pallidus and central tegmental tract was found on brain MRI performed when the patient developed encephalopathy at the age of 3 months and was evaluated as compatible with vigabatrin toxicity. Genetic analysis revealed a c.356G>A (p.Arg119Gln) hemizygous missense variant in the exon 2 of the PIGA gene, which was classified as pathogenic according to the ACMG 2015 variant classification guidelines. After discontinuing vigabatrin, the patient's clinical findings improved significantly. Conclusions The development of vigabatrin toxicity in a patient with PIGA gene mutation-associated infantile epileptic encephalopathy syndrome (IESS) is important because it is reported for the first time in the literature. Further case reports are needed to understand the relationship between genetic causes and vigabatrin toxicity in IESS.