Łagodna wada rozwojowa kory mózgowej z rozrostem komórek glejowych w epilepsji (MOGHE) - opis przypadku z rzadką mutacją genetyczną

BACKGROUND: Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a recently recognized cortical malformation linked to epilepsy, characterized by subtle cortical and white matter (WM) abnormalities. Typical MOGHE is predominantly associated with somatic variants, while the genetic and phenotypic spectrum of MOGHE-like cortical malformations remains incompletely understood, with diverse undetermined molecular mechanisms contributing to disease heterogeneity and epileptogenesis. CASE DESCRIPTION: We report an 8-year-old girl with early-onset, drug-resistant epilepsy localized to the right temporal lobe. Brain magnetic resonance imaging (MRI) revealed atypical enlargement and irregular morphological changes of the right temporal lobe with a disrupted gray-white matter (GM-WM) interface, presenting cyst-like malformative changes that deviate from classic MOGHE radiological features. Neuropathological examination demonstrated cortical architectural disturbance, dysoriented neuronal clusters, and mild oligodendroglial hyperplasia consistent with a MOGHE-like spectrum lesion, while no histopathological evidence of low-grade epilepsy-associated tumor or other neoplastic lesions was identified. Whole exome sequencing (WES) identified a heterozygous c.182A>G (p.Q61R) variant, which is predicted to be functionally deleterious and interpreted as a potentially pathogenic variant based on standard clinical and genetic criteria. The patient achieved favorable post-surgical seizure control, and the pathogenic contribution of this rare variant requires further validation. CONCLUSIONS: This case characterizes a rare epileptogenic MOGHE-like cortical malformation driven by a unique c.182A>G (p.Q61R) variant, expanding the molecular genetic spectrum of MOGHE-spectrum lesions. The findings indicate that alternative RAS-pathway molecular alterations may participate in the development of atypical MOGHE-like malformations and related epileptogenesis. This study underscores the necessity of comprehensive integration of radiological, histopathological, and genetic evidence for accurate diagnosis of atypical cortical developmental lesions, and provides novel insights for future mechanistic exploration and precision therapeutic research in refractory epilepsy associated with cortical malformations.