Radiologic study of 42 cases of Wilson disease

A 17-year-old man was admitted with a complaint of knee pain. He was diagnosed with Wilson disease by ophthalmologic and laboratory studies during hospitalization. Initial plain radiography of both knees showed multiple osteochondritis dissecans (OCD) on the medial and lateral femoral condyles of both knees. Subsequent magnetic resonance imaging showed multiple OCDs, which were symmetric on both knees. Subchondral cysts on the medial condyle and trochlear dysplasia were additionally evident on both femurs. We report this case with a focus on the imaging findings.

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“…Hepatolenticular degeneration is a rare inborn disease of defective copper metabolism and is inherited as an autosomal recessive trait1).…”

Section: Discussionmentioning

confidence: 99%

“…Wilson disease is a rare autosomal recessive disorder in which an elevated level of copper accumulates in the liver and other organs, which can eventually result in serious harm to the nervous system, kidneys, and eyes1,2). Wilson disease is present at birth but symptoms generally take years to appear, usually between the ages of four and late teens.…”

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confidence: 99%

Multiple Osteochondritis Dissecans of Knee Joint in a Patient with Wilson Disease, Focusing on Magnetic Resonance Findings

Park

Kim

et al. 2013

Knee Surg Relat Res

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“…Previous studies showed significant proportions of their patients with bone loss from 24[ 7 ] to 78%. [ 8 ] However, their measurements are from observations of simple radiograph, and the subjective examination is considered imprecise to some extent in order to find the presence of demineralization.…”

Section: Discussionmentioning

confidence: 99%

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

2015

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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.

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“…In addition to the major clinical findings mentioned previously, WD has been reported to be associated with abnormal skeletal manifestations, including arthritis and premature osteoporosis [9]. However, there are limited reports regarding the diagnosis and management of WD and its possible resultant congenital scoliosis.…”

Section: Case Presentationmentioning

confidence: 99%

“…However, congenital scoliosis in WD has not been reported [9,13]. There are no specific guidelines scoliosis operations on patients with WD, but doctors must keep in mind that the progressive liver cirrhosis, neurologic impairment in WD patients could possibly progress to abnormal before surgery.…”

Section: Case Presentationmentioning

confidence: 99%

Congential scoliosis in Wilson’s disease: case report and review of the literature

Shen

et al. 2014

BMC Surg

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BackgroundWilson’s disease (WD) is an autosomal recessive disorder of copper metabolism, which leads to the accumulation of this metal in liver, brain, cornea and kidney. Little is reported about spinal deformity associated with this syndrome. This study is to present a case of thoracic kyphosis occurring in the setting of Wilson’disease and explore the possible association between the two diseases.Case presentationCase report and literature review. A previously unreported thoracic kyphosis in Wislon’s disease is decribed. The patient was a 7-year-old Chinese female that underwent a posterior correction, using the Moss-SI spinal system performed at Thoracic 9-Lumbar 1 (T9-L1) levels. At 16-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. After evaluating 211 WD patients referred to Peking Union Medical College Hospital from February 1991 to February 2012, the prevalence of congential scoliosis among patients with WD was 5.21% (11/211), much higher than that among general population (1/1000).ConclusionsTo the best of our knowledge, this is the first report of WD with thoracic kyphosis. During sugery, surgeons and anesthesiologists must pay particular attention to the abnormal liver and brain function associated with WD. The prevalence of scoliosis is much higher among patients with WD, indicating a potential association between congential scoliosis and WD. However, the exact mechanism how copper-chelating agents induce scoliosis is unclear.

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Radiologic study of 42 cases of Wilson disease

Cited by 41 publications

References 5 publications

Multiple Osteochondritis Dissecans of Knee Joint in a Patient with Wilson Disease, Focusing on Magnetic Resonance Findings

Multiple Osteochondritis Dissecans of Knee Joint in a Patient with Wilson Disease, Focusing on Magnetic Resonance Findings

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

Congential scoliosis in Wilson’s disease: case report and review of the literature

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