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

TL;DR

A six-year-old boy with Morquio Syndrome is reported, highlighting clinical features and management challenges of this rare genetic disorder.

Contribution

This case report provides insights into the clinical and diagnostic challenges of Morquio Syndrome in a Palestinian context.

Findings

The patient exhibited growth retardation and skeletal deformities consistent with Morquio Syndrome.

Early recognition and comprehensive treatment are emphasized for better patient outcomes.

The report underscores the importance of a multidisciplinary approach in managing this rare disorder.

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.

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