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Multiple pseudofractures due to Fanconi's syndrome associated with Wilson's disease.
- Source :
-
Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2017 Sep 30; Vol. 57 (9), pp. 527-530. Date of Electronic Publication: 2017 Aug 31. - Publication Year :
- 2017
-
Abstract
- We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. On neurologic examinations, dysarthria and dysphagia due to pseudobulbar palsy, rigidity and tremor on right upper lim were observed. WD was confirmed because of low levels of plasma cupper and ceruloplasmin in addition to ATP7B gene mutation. The chest X-ray revealed multiple fractures of the several ribs. We diagnosed osteomalacia due to Fanconi's syndrome because of hypophosphatemia and the impairment of renal tubules for WD. After administration of vitamin D, there happened no new bone pseudofractures. Although bone pseudofractures accompanied by Wilson's disease generally happen in childhood, we should be aware of this symptom even in adulthood.
- Subjects :
- Adenosine Triphosphatases genetics
Adult
Biomarkers blood
Cation Transport Proteins genetics
Ceruloplasmin
Copper blood
Copper-Transporting ATPases
Fanconi Syndrome diagnosis
Fractures, Multiple diagnostic imaging
Fractures, Multiple drug therapy
Hepatolenticular Degeneration diagnosis
Humans
Male
Mutation
Osteomalacia etiology
Rib Fractures drug therapy
Tomography, X-Ray Computed
Treatment Outcome
Vitamin D administration & dosage
Fanconi Syndrome etiology
Fractures, Multiple etiology
Hepatolenticular Degeneration complications
Rib Fractures etiology
Subjects
Details
- Language :
- Japanese
- ISSN :
- 1882-0654
- Volume :
- 57
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Rinsho shinkeigaku = Clinical neurology
- Publication Type :
- Academic Journal
- Accession number :
- 28855492
- Full Text :
- https://doi.org/10.5692/clinicalneurol.cn-000953