O'heireamhoin S, Bayer T, Mulhall K J
Department of Orthopaedic Surgery, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland ; Sports Surgery Clinic, Santry Demesne, Suite 4, Dublin 9, Ireland.
Case Rep Orthop. 2011;2011:832439. doi: 10.1155/2011/832439. Epub 2012 Jan 26.
Children affected by mucopolysaccharidosis (MPS) type IH (Hurler Syndrome), an autosomal recessive metabolic disorder, are known to experience a range of musculoskeletal manifestations including spinal abnormalities, hand abnormalities, generalised joint stiffness, genu valgum, and hip dysplasia and avascular necrosis. Enzyme therapy, in the form of bone marrow transplantation, significantly increases life expectancy but does not prevent the development of the associated musculoskeletal disorders. We present the case of a 23-year-old woman with a diagnosis of Hurler syndrome with a satisfactory result following uncemented total hip arthroplasty.
患有I型黏多糖贮积症（胡勒综合征）的儿童，这是一种常染色体隐性代谢紊乱疾病，已知会出现一系列肌肉骨骼表现，包括脊柱异常、手部异常、全身关节僵硬、膝外翻、髋关节发育不良和缺血性坏死。以骨髓移植形式进行的酶疗法可显著提高预期寿命，但不能预防相关肌肉骨骼疾病的发展。我们报告了一例23岁诊断为胡勒综合征的女性患者，其在非骨水泥全髋关节置换术后取得了满意的结果。
