Radiographic assessment of mucopolysaccharidoses: A pictorial review.

Abstract

Mucopolysaccharidoses (MPS) encompass a spectrum of inherited lysosomal storage disorders caused by deficiencies in enzymes required for glycosaminoglycan (GAG) degradation. These enzymatic deficits lead to GAG accumulation within lysosomes, resulting in progressive multiorgan damage, with skeletal abnormalities prominently affecting diagnostic imaging. Radiologists play a crucial role in identifying characteristic skeletal changes, including skull deformities like J-shaped sella turcica, cranial thickening, spinal abnormalities such as odontoid hypoplasia and kyphosis, and unique thoracic and pelvic malformations. This review synthesizes radiographic findings across MPS subtypes, underscoring the importance of early diagnosis and continual imaging to monitor disease progression, particularly in the context of enzyme replacement therapy (ERT). While ERT offers symptom stabilization, it provides limited reversal of established structural abnormalities. Comprehensive radiographic assessment remains indispensable for guiding both symptomatic management and potential surgical intervention, thereby enhancing clinical outcomes for MPS patients.