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

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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Publication Details

Journal
Cureus
Published
2025-04-21
DOI
https://doi.org/10.7759/cureus.82676
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Rou’a E Farah, Rahaf E Farah, Shadi A Abuisneina, Isra W Ayasa
Cureus
Lysosomal Storage Disorders Research
article

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

Rou’a E Farah, Rahaf E Farah, Shadi A Abuisneina, Isra W Ayasa
article en

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.

CureusVol. 17(4)
Princess Anne Hospital (GB), Palestine Polytechnic University (PS)
Openalex Percentile: Top 90%
Lysosomal Storage Disorders Research
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