Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.

ABSTRACT:

Background

Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of the peripheral and central nervous. Late-onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late-onset KD in a Chinese family. The first case involves a 25-year-old female who sought treatment due to long-standing spastic gait and deformities in her lower limbs. A muscle biopsy revealed muscle atrophy, and electromyography indicated neurogenic damage. Her 27-year-old sister (Case 2) exhibited similar lower limb weakness, along with more severe central and peripheral neurol

SUBMITTER: Sun Y 

PROVIDER: S-EPMC11775926 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature