Mucopolysaccharidosis presenting as pediatric multiple aortic aneurysm: first reported case.
J Vasc Surg
; 26(4): 704-10, 1997 Oct.
Article
en En
| MEDLINE
| ID: mdl-9357476
Within the pediatric population, the rare aortic aneurysm is most often brought on by congenital cardiovascular malformation or connective tissue disorder, trauma, inflammatory disease, or infection. Thus our 8-year-old patient who had multiple aortic aneurysms and evidence of mucopolysaccharidosis presented a doubly unique case. Three and one-half months after the patient underwent emergency aortic valve replacement, we performed resection and graft replacement of both her descending thoracic aorta and thoracoabdominal aorta. Histologic analysis of the aneurysm wall displayed severe medial degeneration with large deposits of acid mucopolysaccharides. Subsequent evaluation, although negative for connective tissue disorders, showed glycosaminoglycans, chondroitin sulfate, and heparan sulfate in the patient's urine. These findings are diagnostic for a heterogeneous group of storage diseases termed mucopolysaccharidoses, although testing of the patient's cultured fibroblasts failed to reveal any specific previously described enzymatic defect. After reviewing the literature, we believe that this is the first known successfully treated pediatric aortic aneurysm associated with mucopolysaccharidosis.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Aneurisma de la Aorta
/
Mucopolisacaridosis
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
J Vasc Surg
Asunto de la revista:
ANGIOLOGIA
Año:
1997
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos