Basal Nuclei Lesions and Cholecystitis As Initial Findings of Late Infantile Metachromatic Leukodystrophy
Clinical neurology and neurosurgery(2023)
Abstract
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disease. MLD can be divided into three clinical forms: late infantile, juvenile, and adult, with late infantile being the most common. Infantile MLD with unusual onset has been reported. In the study, we reported a case of late infantile MLD with basal nuclei lesions and cholecystitis as the initial findings, which further broadens late infantile MLD onset and contributes to early clinical diagnosis.
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Key words
Lysosomal Storage Diseases
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