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

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.

A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria

“…A review of Indian patients reported refractory rickets and renal tubular diseases in approximately one-third of the cases of 25 patients with WD (47,48).…”

Challenges in the diagnosis of Wilson disease

“…R heu matoid problems are a not her classic early manifestation of WD characterized by joint or osseous pain as well as demineralisation leading to unusual bone fractures (7,(83)(84)(85). Misra et al reported a 30-year-old patient with slowly progressive pain in the small and large joints for 14 years (85).…”

Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency

“…However, they might be a result of a complex pathophysiological mechanism of this disease, as it is known that there is a connection between copper metabolism, copper plasma levels and bone health 27 . In addition, bone fractures have also been described in Menkes and Wilson disease 28,29 …”