Literature DB >> 23761609

Rachitic chest in a young adult male: Fanconi's syndrome--idiopathic type.

Tom Edward Ngo Lo1.   

Abstract

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.

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Year:  2013        PMID: 23761609      PMCID: PMC3702916          DOI: 10.1136/bcr-2013-009873

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  4 in total

1.  [Long-term follow-up study of bone mineral density in a patient with adult idiopathic Fanconi syndrome].

Authors:  K Uchida; S Yuasa; N Takahashi; T Shoji; H Kiyomoto; H Fujioka; M Hashimoto; Y Fujita; H Matsuo
Journal:  Nihon Jinzo Gakkai Shi       Date:  1997-03

2.  The adult Fanconi syndrome: observations on etiology, morphology, renal function and mineral metabolism in three patients.

Authors:  D B Lee; J P Drinkard; V J Rosen; H C Gonick
Journal:  Medicine (Baltimore)       Date:  1972-03       Impact factor: 1.889

3.  Hypophosphataemic osteomalacia due to de Toni-Debre-Fanconi syndrome in a 19-year old girl.

Authors:  Tasoula Tsilchorozidou; John G Yovos
Journal:  Hormones (Athens)       Date:  2005 Jul-Sep       Impact factor: 2.885

4.  Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion.

Authors:  W S Long; M R Seashore; N J Siegel; M J Bia
Journal:  Yale J Biol Med       Date:  1990 Jan-Feb
  4 in total

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