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Mucopolysaccharidosis presenting as pediatric multiple aortic aneurysm: first reported case
Journal of Vascular Surgery
|November 14, 1997
Summary
This study reports the first successful treatment of pediatric aortic aneurysms in a patient with mucopolysaccharidosis. The case highlights a rare presentation of aortic disease linked to this metabolic disorder.
Area of Science:
- Cardiovascular Surgery
- Pediatric Cardiology
- Medical Genetics
Background:
- Aortic aneurysms in children are rare, often linked to congenital issues, connective tissue disorders, or trauma.
- Mucopolysaccharidoses (MPS) are a group of rare genetic disorders characterized by the accumulation of glycosaminoglycans.
Observation:
- An 8-year-old patient presented with multiple aortic aneurysms and signs of mucopolysaccharidosis.
- The patient underwent complex aortic reconstructive surgery, including descending thoracic and thoracoabdominal aorta replacement.
Findings:
- Histological analysis revealed severe medial degeneration and acid mucopolysaccharide deposits in the aneurysm wall.
- Urinary analysis confirmed the presence of glycosaminoglycans, chondroitin sulfate, and heparan sulfate, indicative of MPS.
- Despite the MPS diagnosis, specific enzymatic defects were not identified in cultured fibroblasts.
Implications:
- This case represents the first documented instance of successful surgical management of pediatric aortic aneurysms associated with mucopolysaccharidosis.
- The findings underscore the importance of considering metabolic disorders in pediatric aortic pathology.
- Further research into the specific mechanisms linking MPS to aortic degeneration is warranted.