Hale Steven S, Bales Joshua G, Rosenzweig Seth, Daroca Phillip, Bennett James T
Department of Orthopaedic Surgery, University of Tennessee, Memphis, Tennessee, USA.
J Pediatr Orthop B. 2006 May;15(3):215-9. doi: 10.1097/01.bpb.0000188248.79029.1d.
Mannosidosis is an extremely rare genetic disease characterized by a deficiency of the lysosomal enzyme, alpha-mannosidase. This enzyme is necessary for cleavage of mannose from many glycoproteins. In the absence of this enzyme, mannose accumulates in cells throughout the body, including the joints and the synovium. This disease causes many skeletal changes including dysostosis multiplex, synovial hypertrophy, and Charcot-type joints. We report the case of a girl, aged 9 years and 6 months, who developed bilateral patellar dislocation and severe synovial hypertrophy secondary to alpha-mannosidase deficiency. Her disease was further complicated by Charcot elbow and bilateral hip and elbow avascular necrosis.
甘露糖苷贮积症是一种极其罕见的遗传性疾病，其特征为溶酶体酶α-甘露糖苷酶缺乏。该酶对于从许多糖蛋白中切割甘露糖是必需的。在缺乏这种酶的情况下，甘露糖会在全身细胞中蓄积，包括关节和滑膜。这种疾病会导致许多骨骼变化，包括多发性骨发育异常、滑膜肥厚和夏科氏关节。我们报告了一例9岁6个月大的女孩病例，该女孩因α-甘露糖苷酶缺乏继发双侧髌骨脱位和严重滑膜肥厚。她的病情因夏科氏肘关节以及双侧髋部和肘部缺血性坏死而进一步复杂化。
