Pathological fractures as an initial presentation of Wilson's disease.
BMJ Case Rep
; 20132013 Apr 09.
Article
em En
| MEDLINE
| ID: mdl-23576656
ABSTRACT
Wilson's disease (WD) has varied phenotypic presentations. Here we report the case of a 16-year-old boy who presented with a history of multiple pathological fractures, severe joint deformities, hepatic dysfunction, cognitive decline and limb dystonia. On examination, the patient had pinched out facies, pallor and leukonychia totalis. Bilateral Kayser Fleischer (KF) ring was present. Musculoskeletal examination revealed pectus carinatum, bilateral genu valgus and gun-stock deformity of the left elbow joint. Splenomegaly and moderate ascites were present. Neurological examination revealed mild rigidity and intermittent episodes of dystonic posturing of all four limbs. On this basis a diagnosis of WD with dystonia with cirrhosis of liver with portal hypertension with renal tubular acidosis with renal rickets was thought likely. Investigations confirmed the diagnosis. The patient was started on treatment but he did not improve. He suffered aspiration pneumonia during his hospital stay and succumbed to the illness.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fraturas Espontâneas
/
Degeneração Hepatolenticular
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article