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

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• 作者：Zheng Li ; Xin Yu ; Jianxiong Shen ; Jinqian Liang
• 关键词：Wilson’s disase ; Thoracic kyphosis ; Congential scoliosis
• 刊名：BMC Surgery
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：14
• 期：1
• 全文大小：732 KB
• 参考文献：1. Rosencrantz, R, Schilsky, M (2011) Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis 31: pp. 245-259 CrossRef
  2. Compston, A (2009) Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509. Brain 132: pp. 1997-2001 CrossRef
  3. Bull, PC, Thomas, GR, Rommens, JM, Forbes, JR, Cox, DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5: pp. 327-337 CrossRef
  4. Burkhead, JL, Gray, LW, Lutsenko, S (2011) Systems biology approach to Wilson's disease. Biometals 24: pp. 455-466 CrossRef
  5. Warnock, CG (1952) Hepatolenticular degeneration; Wilson's disease; a report of five cases, with commentary. Ulster Med J 21: pp. 155-171
  6. Lugassy, G, Michaeli, J, Oren, R (1988) Wilson's disease presenting as isolated arthritis of the hip. Arthritis Rheum 31: pp. 573-575 CrossRef
  7. Emlakcioglu, E, Ozcakar, L, Kaymak, B, Bayraktar, Y, Akinci, A (2009) Arthritis due to Wilson disease, penicillamine, psoriasis or hepatocellular carcinoma? Blurred focus, sharp boundaries. Acta Reumatol Port 34: pp. 685-686
  8. Mak, CM, Lam, CW (2008) Diagnosis of Wilson's disease: a comprehensive review. Crit Rev Clin Lab Sci 45: pp. 263-290 CrossRef
  9. Xie, YZ, Zhang, XZ, Xu, XH, Zhang, ZX, Feng, YK (1985) Radiologic study of 42 cases of Wilson disease. Skeletal Radiol 13: pp. 114-119 CrossRef
  10. Purchase, R (2013) The treatment of Wilson's disease, a rare genetic disorder of copper metabolism. Sci Prog 96: pp. 19-32 CrossRef
  11. Bennett, J, Hahn, SH (2011) Clinical molecular diagnosis of Wilson disease. Semin Liver Dis 31: pp. 233-238 CrossRef
  12. Krumina, A, Keiss, J, Sondore, V, Chernushenko, A, Cernevska, G, Zarina, A, Micule, I, Piekuse, L, Kreile, M, Lace, B, Krumina, Z, Rozentale, B (2008) From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia. Genetika 44: pp. 1379-1384
  13. Golding, DN, Walshe, JM (1977) Arthropathy of Wilson's disease. Study of clinical and radiological features in 32 patients. Ann Rheum Dis 36: pp. 99-111 CrossRef
  14. Dastych, M, Cienciala, J, Krbec, M (2008) Changes of selenium, copper, and zinc content in hair and serum of patients with idiopathic scoliosis. J Orthop Res 26: pp. 1279-1282 CrossRef
  15. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2482/14/71/prepub
  
• 刊物主题：Surgery; Internal Medicine;
• 出版者：BioMed Central
• ISSN：1471-2482

文摘

Background Wilson’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 presentation Case 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). Conclusions To 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.