Bilateral patellar dislocation associated with alpha-mannosidase deficiency.
J Pediatr Orthop B
; 15(3): 215-9, 2006 May.
Article
em En
| MEDLINE
| ID: mdl-16601592
ABSTRACT
Mannosidosis is an extremely rare genetic disease characterized by a deficiency of the lysosomal enzyme, alpha-mannosidase. This enzyme is necessary for cleavage of mannose from many glycoproteins. In the absence of this enzyme, mannose accumulates in cells throughout the body, including the joints and the synovium. This disease causes many skeletal changes including dysostosis multiplex, synovial hypertrophy, and Charcot-type joints. We report the case of a girl, aged 9 years and 6 months, who developed bilateral patellar dislocation and severe synovial hypertrophy secondary to alpha-mannosidase deficiency. Her disease was further complicated by Charcot elbow and bilateral hip and elbow avascular necrosis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Patela
/
Alfa-Manosidase
/
Luxações Articulares
/
Alfa-Manosidose
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
J Pediatr Orthop B
Assunto da revista:
ORTOPEDIA
/
PEDIATRIA
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Estados Unidos