J Bone Metab.  2015 Feb;22(1):33-37. 10.11005/jbm.2015.22.1.33.

Fracture in a Young Male Patient Leading to the Diagnosis of Wilson's Disease: A Case Report

Affiliations
  • 1Department of Orthopedic Surgery, Wonju Severance Christian Hospital, Wonju College of Medicine, Yonsei University, Wonju, Korea. csin19@hanmail.net

Abstract

Wilson's disease is a rare genetic disorder that has abnormal copper metabolism. Although the disease's main problems are found in liver and brain, some studies revealed manifestation of various musculoskeletal problems in the patients. In this report, we encountered a young patient who had fracture in the forearm bone. Initially, exception to a previous history of fracture from a motorcycle accident, the patient did not have any medical or drug use history, and laboratory work-ups were insignificant. However, with suspicion on his bone's integrity, bone densitometry was recommended and revealed osteopenic change. To disclose a cause for the change, questions were made to recall any particular history or event, and his complaint of recent vision loss led to ophthalmologic consultation where under slit-lamp test found Kayser-Fleischer ring. Further laboratory work-up found low levels of serum copper and ceruloplasmin and high copper level in 24-hr urine sample that led to the diagnosis of Wilson's disease. Although Wilson's disease has been frequently noticed with considerable musculoskeletal manifestation, it rarity makes the diagnosis illusive to a physician. Hence, despite of its rarity, it is imperative to remember the disease's bony manifestation, and it should be suspected in young patients with demineralized bone when the reason for brittle bone cannot be answered with other better known conditions.

Keyword

Bone diseases metabolic; Fractures bone; Hepatolenticular degeneration

MeSH Terms

Brain
Ceruloplasmin
Copper
Densitometry
Diagnosis*
Forearm
Hepatolenticular Degeneration*
Humans
Liver
Male
Metabolism
Motorcycles
Ceruloplasmin
Copper

Figure

  • Fig. 1 Simple radiography revealing both radial and ulnar shafts fracture in left forearm.

  • Fig. 2 Immediate postoperative radiography showing fixation with a plate for ulna and a Khai nail for radius.

  • Fig. 3 Reexamination of the patient's initial radiograms raised suspicion of osteoarticular changes, and in this figure, distal portion of the radius has thinning of cortex, abnormal striation of trabeculae and sclerotic joint margin.

  • Fig. 4 Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).


Cited by  1 articles

Pathological Fracture of Femoral Neck Leading to a Diagnosis of Wilson's Disease: A Case Report and Review of Literature
Nishit Bhatnagar, Purushotham Lingaiah, Jeetendra Singh Lodhi, Yugal Karkhur
J Bone Metab. 2017;24(2):135-139.    doi: 10.11005/jbm.2017.24.2.135.


Reference

1. Mindelzun R, Elkin M, Scheinberg IH, et al. Skeletal changes in Wilson's disease. A radiological study. Radiology. 1970; 94:127–132.
2. Quemeneur AS, Trocello JM, Ea HK, et al. Miscellaneous non-inflammatory musculoskeletal conditions. Musculoskeletal conditions associated with Wilson's disease. Best Pract Res Clin Rheumatol. 2011; 25:627–636.
3. Golding DN, Walshe JM. Arthropathy of Wilson's disease. Study of clinical and radiological features in 32 patients. Ann Rheum Dis. 1977; 36:99–111.
Article
4. Rosenoer VM, Michell RC. Skeletal changes in Wilson's disease (hepato-lenticular degeneration). Br J Radiol. 1959; 32:805–809.
5. Kaklamanis P, Spengos M. Osteoarticular changes and synovial biopsy findings in Wilson's disease. Ann Rheum Dis. 1973; 32:422–427.
Article
6. Feller ER, Schumacher HR. Osteoarticular changes in Wilson's disease. Arthritis Rheum. 1972; 15:259–266.
Article
7. Xie YZ, Zhang XZ, Xu XH, et al. Radiologic study of 42 cases of Wilson disease. Skeletal Radiol. 1985; 13:114–119.
Article
8. Aksoy M, Camli N, Dincol K, et al. Osseous changes in Wilson's disease. A radiologic study of nine patients. Radiology. 1972; 102:505–509.
9. Hegedus D, Ferencz V, Lakatos PL, et al. Decreased bone density, elevated serum osteoprotegerin, and beta-cross-laps in Wilson disease. J Bone Miner Res. 2002; 17:1961–1967.
Article
10. Selimoglu MA, Ertekin V, Doneray H, et al. Bone mineral density of children with Wilson disease: efficacy of penicillamine and zinc therapy. J Clin Gastroenterol. 2008; 42:194–198.
Full Text Links
  • JBM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr