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

TL;DR

A 28-year-old man with late-onset Krabbe disease initially showed seizures, not the usual gait issues, expanding the known symptoms of the disease.

Contribution

This case report expands the clinical presentation of adult-onset Krabbe disease by highlighting seizures as an initial symptom.

Findings

Generalized tonic-clonic seizures were the first symptom in a patient with late-onset Krabbe disease.

MRI showed symmetrical white matter lesions and early cortical involvement.

Compound heterozygous GALC gene variants were identified through genetic testing.

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.

Figures