DOI: https://doi.org/10.36347/sjmcr.2026.v14i05.028

Pages: 981-985

Mucopolysaccharidoses are rare, progressive, multisystem lysosomal storage disorders caused by enzymatic deficiencies leading to the accumulation of glycosaminoglycans in tissues. Neurological involvement is particularly prominent in neuronopathic forms, especially severe MPS I, severe MPS II, MPS III, and MPS VII, although neuroradiological abnormalities may also be observed in forms classically considered non-neuronopathic or only mildly neuronopathic. Among these abnormalities, cystic lesions of the corpus callosum most often correspond to dilated Virchow–Robin perivascular spaces, sometimes associated with white matter signal abnormalities, ventriculomegaly, cerebral atrophy, or communicating hydrocephalus. Brain MRI, particularly sagittal T1- and T2-weighted sequences, axial T2, FLAIR, and diffusion-weighted imaging, is the modality of choice for characterizing these lesions, differentiating them from leukodystrophy, cystic encephalomalacia, or primary callosal malformations, and ensuring follow-up. Recognition of these lesions has diagnostic value, because their presence in the corpus callosum is unusual in healthy individuals and should suggest a metabolic disorder, especially when associated with dysostosis multiplex, macrocephaly, ENT involvement, hepatosplenomegaly, or neurodevelopmental delay. Management is based on a multidisciplinary approach combining specific therapy when available, treatment of neurological complications, and regular radioclinical follow-up.