Basal Nuclei Lesions and Cholecystitis As Initial Findings of Late Infantile Metachromatic Leukodystrophy

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.