Late-onset Krabbe disease: Spectrum of radiological findings

Krabbe disease (KD) is a lysosomal disease caused by an enzyme defect that causes galactocerebrosidase to accumulate in tissue. It causes radiological findings in the leukodystrophy pattern. This article aims to interpret the most common and rare radiological findings. Magnetic resonance imaging and computed tomography examinations revealed corticospinal tract, periventricular white matter, corpus callosum and dentate nucleus involvement, and cerebral calcification in four children with late-onset KD. The most common finding is pathological signal in the corticospinal system; the rarest finding is calcification.

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Publication Details

Journal
Case Reports in Clinical Radiology
Published
2025-05-31
DOI
https://doi.org/10.25259/crcr_34_2025
Primary Topic
Lysosomal Storage Disorders Research
Type
article
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article

Late-onset Krabbe disease: Spectrum of radiological findings

Avni Merter Keçeli, Hasan Süngü
Case Reports in Clinical Radiology
Lysosomal Storage Disorders Research
article

Late-onset Krabbe disease: Spectrum of radiological findings

Avni Merter Keçeli, Hasan Süngü
article en

Abstract

Krabbe disease (KD) is a lysosomal disease caused by an enzyme defect that causes galactocerebrosidase to accumulate in tissue. It causes radiological findings in the leukodystrophy pattern. This article aims to interpret the most common and rare radiological findings. Magnetic resonance imaging and computed tomography examinations revealed corticospinal tract, periventricular white matter, corpus callosum and dentate nucleus involvement, and cerebral calcification in four children with late-onset KD. The most common finding is pathological signal in the corticospinal system; the rarest finding is calcification.

Case Reports in Clinical RadiologyVol. 3
Memorial Ankara Hospital (TR)
Openalex Percentile: Top 84%
Lysosomal Storage Disorders Research
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