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Morquio Syndrome: A Case Report.
Kamleshun Ramphul1, Stephanie G Mejias2, Yogeshwaree Ramphul-Sicharam3
1Department of Pediatrics, Shanghai Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.
Cureus
|May 9, 2018
Summary
Morquio syndrome (MPS IV) is a rare genetic disorder causing skeletal deformities and potential heart and lung issues. This case highlights a young male from Iraq with severe symptoms, emphasizing diagnostic and treatment challenges.
Area of Science:
- Genetics
- Metabolic Disorders
- Pediatrics
Background:
- Mucopolysaccharidosis type IV (MPS IV), or Morquio syndrome, is a rare autosomal recessive lysosomal storage disease.
- Characterized by skeletal abnormalities and potential cardiopulmonary complications.
- Associated with significant diagnostic and treatment costs and accessibility issues.
Observation:
- A case study of a seven-year-old male patient from Iraq.
- Patient presented with multiple severe skeletal deformities.
- Illustrates the clinical manifestations of Morquio syndrome in a specific demographic.
Findings:
- The case exemplifies the complex presentation of MPS IV.
- Highlights the impact of skeletal deformities in affected children.
- Underscores the need for accessible diagnostic and treatment pathways.
Implications:
- Emphasizes the importance of early diagnosis for MPS IV management.
- Suggests a need for improved healthcare accessibility for rare diseases in diverse regions.
- Informs clinical understanding and management strategies for Morquio syndrome.
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