AUTHOR=Xie Sifen , Kuang Zuying , Pan Mengqiu , Zhang Kanghua , Ye Jinlong , Li Bo , Luo Sheng , Wang Zhanhang 

TITLE=Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report

JOURNAL=Frontiers in Behavioral Neuroscience

VOLUME=Volume 19 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/behavioral-neuroscience/articles/10.3389/fnbeh.2025.1564676

DOI=10.3389/fnbeh.2025.1564676

ISSN=1662-5153

ABSTRACT=Krabbe disease (KD), also known as globoid cell leukodystrophy, is a rare autosomal recessive neurodegenerative disorder caused by pathogenic variants in the GALC gene. While infantile-onset KD is prevalent globally, adult-onset KD is frequently presented in East Asian populations and typically manifests with progressive spastic paraparesis. We herein report a unique case of a 28-years-old male who initially presented with generalized tonic-clonic seizures, rather than the classic gait disturbance. Brain MRI revealed symmetrical white matter lesions and early cortical involvement. Genetic testing revealed compound heterozygous GALC variants (c.908C > T/p.Ser303Phe and c.136G > T/p.Asp46Tyr). Subsequent enzyme assays confirmed low galactocerebrosidase activity. This case broadens the clinical spectrum of adult-onset KD and highlights the importance of considering KD in the differential diagnosis of adult epilepsy with progressive neurological symptoms.