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伴有难治性佝偻病的神经型威尔逊病

Neurological Wilson's disease with refractory rickets.

作者信息

Kaur Satnam, Maheshwari Anu, Aneja Satinder, Patra Soumya, Krishnamurthy Sriram, Seth Anju

机构信息

Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India.

出版信息

J Pediatr Endocrinol Metab. 2011;24(3-4):185-6. doi: 10.1515/jpem.2011.094.

Abstract

Wilson's disease rarely presents with isolated neurological complaints without any hepatic involvement. Refractory rickets with Wilson's disease has been infrequently reported in literature. We are reporting a case of isolated neurological Wilson's disease associated with refractory rickets which on complete evaluation was diagnosed as familial hypophosphatemic rickets.

摘要

威尔逊病很少仅表现为孤立的神经症状而无任何肝脏受累情况。文献中很少报道威尔逊病合并难治性佝偻病的病例。我们报告一例孤立性神经型威尔逊病合并难治性佝偻病的病例,经全面评估诊断为家族性低磷血症性佝偻病。

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