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
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