Rachitic chest in a young adult male: Fanconi's syndrome--idiopathic type.
BMJ Case Rep
; 20132013 Jun 12.
Article
en En
| MEDLINE
| ID: mdl-23761609
Presented in this paper is a case of a 36-year-old Filipino man presenting with a chronic history of intermittent proximal muscle weakness and paralysis which was associated with failure to thrive, severe bony deformities, muscle wasting and multiple electrolyte abnormalities (hypokalaemia, hypocalcaemia, hypomagnesaemia). Severe skeletal deformities led to a pathological fracture of the femoral bone and restrictive chest wall expansion during inspiration necessitating admission and consult at our institution. Correction of multiple electrolyte abnormalities was the mainstay of treatment for this case and resulted into full reversal of paralytic symptoms but skeletal and osseous abnormalities persisted. This case highlights the insidious course and subtle signs of Fanconi's syndrome leading to disfiguring skeletal deformities and abnormalities if not diagnosed early. Early suspicion and eventual diagnosis might be the key for these patients to have normal productive life devoid of crippling complications.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tórax
/
Síndrome de Fanconi
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
BMJ Case Rep
Año:
2013
Tipo del documento:
Article
País de afiliación:
Filipinas
Pais de publicación:
Reino Unido