Kaur Satnam, Maheshwari Anu, Aneja Satinder, Patra Soumya, Krishnamurthy Sriram, Seth Anju
Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India.
J Pediatr Endocrinol Metab. 2011;24(3-4):185-6. doi: 10.1515/jpem.2011.094.
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.
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。
