{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T12:10:10Z","timestamp":1777032610188,"version":"3.51.4"},"reference-count":18,"publisher":"American Academy of Pediatrics (AAP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,10,1]]},"abstract":"<jats:p>Wilson disease (WD) is an autosomal-recessive disorder of hepatic copper metabolism that has tremendous variability in its presentation. Phenotypic diversity of the disease can lead to delayed diagnosis. We describe a case of WD in a 10-year-old boy presenting with 3 months of increasingly intense, spasmodic lower extremity muscle cramps. Physical examination revealed tenderness on calf palpation and dark flat lesions over his ankles, knees, and elbows. Initial testing revealed creatine kinase of 302 IU\/L (normal 24\u2013248 IU\/L), hemoglobin of 8.9 g\/dL (11.5\u201315.5 g\/dL), aspartate aminotransferase of 114 IU\/L (16\u201352 IU\/L), alanine aminotransferase of 54 IU\/L (2\u201330 IU\/L), and myoglobinuria. Extensive evaluation of his myopathy, including MRI and muscle biopsy, was negative. Additional laboratory tests revealed a prothrombin time of 21.3 seconds (11.8\u201315.5 seconds), total bilirubin of 1.4 mg\/dL (&amp;lt;1 mg\/dL), direct bilirubin of 0.5 mg\/dL (&amp;lt;0.3 mg\/dL), albumin of 2.1 g\/dL (3.1\u20134.6 g\/dL), a reticulocyte percentage of 4.5% (0.5%\u20132.5%), a negative Coombs direct antibody test, ceruloplasmin of 3 mg\/dL (21\u201351 mg\/dL), and 24-h urine copper of 393 \u03bcg\/24 h (15\u201360 \u03bcg\/24 h). Liver biopsy showed patchy advanced fibrosis, mild inflammation, positive staining for copper, and a tissue copper concentration of 768 \u00b5g\/g (10\u201335 \u03bcg\/g). Brain MRI revealed symmetric intrinsic T1 shortening within bilateral basal ganglia. Trientene therapy was initiated for WD. Symptoms and laboratory abnormalities resolved and remain normal at 21 months\u2019 follow-up. Musculoskeletal involvement in WD is uncommon and typically defined as bone demineralization, arthropathy, or hypokalemic muscle weakness. In patients with unexplained musculoskeletal symptoms and hepatic abnormalities, a diagnosis of WD should be considered and appropriate evaluation initiated.<\/jats:p>","DOI":"10.1542\/peds.2012-2923","type":"journal-article","created":{"date-parts":[[2013,9,3]],"date-time":"2013-09-03T01:02:25Z","timestamp":1378170145000},"page":"e1039-e1042","source":"Crossref","is-referenced-by-count":13,"title":["Spasmodic Muscle Cramps and Weakness as Presenting Symptoms in Wilson Disease"],"prefix":"10.1542","volume":"132","author":[{"given":"John M.","family":"Rosen","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Kuntz","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hector","family":"Melin-Aldana","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and"},{"name":"Pathology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lee M.","family":"Bass","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2013,10,1]]},"reference":[{"key":"2021121006531675200_B1"},{"issue":"3","key":"2021121006531675200_B2","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.jhep.2008.09.020","article-title":"Genotype-phenotype correlation in Italian children with Wilson\u2019s disease.","volume":"50","author":"Nicastro","year":"2009","journal-title":"J Hepatol"},{"key":"2021121006531675200_B3","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1186\/1471-2431-11-56","article-title":"Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.","volume":"11","author":"Abdel Ghaffar","year":"2011","journal-title":"BMC Pediatr"},{"issue":"6","key":"2021121006531675200_B4","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1002\/hep.22261","article-title":"Diagnosis and treatment of Wilson disease: an update.","volume":"47","author":"Roberts","year":"2008","journal-title":"Hepatology"},{"issue":"6","key":"2021121006531675200_B5","doi-asserted-by":"crossref","first-page":"1948","DOI":"10.1002\/hep.23910","article-title":"Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.","volume":"52","author":"Nicastro","year":"2010","journal-title":"Hepatology"},{"issue":"9","key":"2021121006531675200_B6","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1001\/jama.1970.03170090058016","article-title":"Skin pigmentation in Wilson\u2019s disease.","volume":"211","author":"Leu","year":"1970","journal-title":"JAMA"},{"issue":"5","key":"2021121006531675200_B7","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/j.berh.2011.10.021","article-title":"Miscellaneous non-inflammatory musculoskeletal conditions: musculoskeletal conditions associated with Wilson\u2019s disease.","volume":"25","author":"Quemeneur","year":"2011","journal-title":"Best Pract Res Clin Rheumatol"},{"issue":"5","key":"2021121006531675200_B8","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1177\/0009922809332684","article-title":"Recurrent limb weakness in a 17-year-old boy.","volume":"48","author":"Thapa","year":"2009","journal-title":"Clin Pediatr (Phila)"},{"issue":"3","key":"2021121006531675200_B9","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1159\/000189114","article-title":"Recurrent hypokalemic muscle weakness as an initial manifestation of Wilson\u2019s disease.","volume":"73","author":"Chu","year":"1996","journal-title":"Nephron"},{"issue":"2","key":"2021121006531675200_B10","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1136\/ard.34.2.201-b","article-title":"Proceedings: the musculoskeletal features of Wilson\u2019s disease: a clinical, radiological, and serological survey.","volume":"34","author":"Golding","year":"1975","journal-title":"Ann Rheum Dis"},{"issue":"8089","key":"2021121006531675200_B11","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/S0140-6736(78)92894-5","article-title":"Drug-induced myopathies in man.","volume":"2","author":"Lane","year":"1978","journal-title":"Lancet"},{"key":"2021121006531675200_B12"},{"issue":"2","key":"2021121006531675200_B13","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1097\/MD.0b013e318045a00e","article-title":"Wilson disease: description of 282 patients evaluated over 3 decades.","volume":"86","author":"Taly","year":"2007","journal-title":"Medicine (Baltimore)"},{"issue":"3","key":"2021121006531675200_B14","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/0016-5085(95)90465-4","article-title":"Copper-induced acute rhabdomyolysis in Wilson\u2019s disease.","volume":"108","author":"Propst","year":"1995","journal-title":"Gastroenterology"},{"issue":"1","key":"2021121006531675200_B15","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/1745-6673-6-34","article-title":"Complications and management of acute copper sulphate poisoning; 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