A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights.

Journal: Cureus
Published:
Abstract

Morquio A syndrome, also known as mucopolysaccharidosis type IVA (MPS IVA), is a rare lysosomal storage disorder that mostly affects the skeletal system. It spares cognitive function but causes short stature, increasing deformities and anomalies in the joints, as well as respiratory, cardiac, dental, hearing, and vision problems. This report describes a six-year-old boy with growth retardation and skeletal deformities, and highlights the characteristic clinical features, diagnostic approach, and challenges in the management of MPS IVA, emphasizing the importance of early recognition and comprehensive treatment strategies to optimize patient outcomes.

Authors
Rou'a Farah, Rahaf Farah, Isra Ayasa, Shadi Abuisneina