1.
J La State Med Soc
; 164(2): 83-6, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22685858
Assuntos
Carcinoma/diagnóstico , Carcinoma/secundário , Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/secundário , Neoplasias Primárias Desconhecidas/diagnóstico , Carcinoma/terapia , Neoplasias Gastrointestinais/terapia , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Coloração e Rotulagem
2.
J Pediatr Orthop B
; 15(3): 215-9, 2006 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16601592
RESUMO
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.