# 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.

## Key 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.