title: Clinical features and outcome in patients with osseomuscular type of Wilson's disease.
abstract: BACKGROUND
  Wilson﻿'s disease ﻿with﻿ osseomuscular type is a rare condition, which often lacks typical hepatic and neurological symptoms and causes misdiagnoses easily. During the past 10 years, eight Chinese patients of osseomuscular type of Wilson's disease were identified in our clinic.
  
  
  METHODS
  Clinical information was gathered from medical records and follow-ups. The genetic testing was performed in each patient. Serum ceruloplasmin, Kayser-Fleischer rings, liver function, brain magnetic resonance imaging and abdominal ultrasonography were also evaluated.
  
  
  RESULTS
  The median age of onset is 12 years of age. The patients had their initial musculoskeletal conditions with arthralgia or joint deformity, while the hepatic or neurologic signs were minimal. Most patients (6/8) eventually developed clinical neurological symptoms afterwards with a median interval of 36 months. All of them had normal liver function and low serum ceruloplasmin (<0.1 g/L). Most patients (6/8) present with Kayser-Fleischer rings and abnormal hepatic ultrasonography. The arthralgia was resolved with copper chelation therapy.
  
  
  CONCLUSIONS
  Wilson's disease with osseomuscular type occurs without typical hepatic or neurological symptoms, which makes the clinical diagnosis challenging. Serum ceruloplasmin, abdominal ultrasonography, ophthalmic examination and genetic testing help to establish the diagnosis. Early diagnosis can initiate an effective treatment and prevent the further damage.
authors.affiliation: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, 88 Jiefang Rd, Hangzhou, 310009, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Yu
authors.affiliation: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, 88 Jiefang Rd, Hangzhou, 310009, China.
authors.forename: Juan-Juan
authors.initials: JJ
authors.lastname: Xie
authors.affiliation: Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
authors.forename: Yu-Chao
authors.initials: YC
authors.lastname: Chen
authors.affiliation: Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
authors.forename: Qin-Yun
authors.initials: QY
authors.lastname: Dong
authors.affiliation: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, 88 Jiefang Rd, Hangzhou, 310009, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Dong
authors.affiliation: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, 88 Jiefang Rd, Hangzhou, 310009, China.
authors.forename: Wang
authors.initials: W
authors.lastname: Ni
authors.affiliation: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, 88 Jiefang Rd, Hangzhou, 310009, China. zhiyingwu@zju.edu.cn.|Joint Institute for Genetics and Genome Medicine between Zhejiang University and University of Toronto, Zhejiang University, Hangzhou, China. zhiyingwu@zju.edu.cn.
authors.forename: Zhi-Ying
authors.initials: ZY
authors.lastname: Wu
mesh_terms: D000005:Abdomen / Q000000981:diagnostic imaging; D000293:Adolescent; D002570:Ceruloplasmin / Q000378:metabolism; D015913:Chelation Therapy; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000378:metabolism; D003315:Cornea / Q000378:metabolism; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008111:Liver Function Tests; D008279:Magnetic Resonance Imaging; D008297:Male; D059906:Neuroimaging; D016896:Treatment Outcome; D014463:Ultrasonography
chemical_list: D003300:Copper; D002570:Ceruloplasmin
keywords: ATP7B; Arthralgia; Copper; Deformity; Osteoarthritis