Berger-Groch Josephine, Rupprecht Martin, Stuecker Ralf, Muschol Nicole, Breyer Sandra R
Department of Trauma-, Hand-, and Reconstructive Surgery, University Medical Center, Hamburg-Eppendorf, Martinistraße, 52, 20246 Hamburg, Germany.
Department of Pediatric Orthopedics, Children's Hospital Altona, Bleickenallee 38, 22763 Hamburg, Germany.
J Orthop Case Rep. 2018 Sep-Oct;8(5):50-53. doi: 10.13107/jocr.2250-0685.1208.
Morquio A syndrome or mucopolysaccharidosis type IVA (MPS IVA) is a progressive lysosomal storage disorder caused by an N-acetylgalactosamine-6-sulfatase deficiency. The abnormal metabolism of glycosaminoglycans among other medical problems leads to various skeletal disorders caused by a dysfunction of endochondral ossification of epiphyseal cartilage. Severe hip dysplasia is common and can lead to pain and impaired mobility.
We report on a 15-year-old girl suffering from MPS IVA. At the age of 5 years, hip pain and a reduced walking distance were described for the 1sttime. At the age of 9 years, acetabulofemoral dysplasia associated with genuavalga was diagnosed. After pre-operative assessment of the hips including plain radiographs, magnetic resonance imaging, and arthrography with dynamic testing a valgization osteotomy of the proximal femur in combination with a shelf acetabuloplasty was performed. The patient was followed for 6 years with a stable hip joint and without any sign of redislocation.
Some treatment strategies of hip dysplasia in patients with MPS IVA are described in the literature. The techniques used for congenital hip dysplasia, varisation of the femur in combination with Pemberton, Salter, or shelf acetabuloplasty, are widely reported. Nevertheless, resubluxations were described in some cases. The well-known surgical procedure with valgization of the proximal femur is not reported in literature for MPS IVA patients. In our opinion, dynamic testing with arthrography should strongly be considered for this particular problem before surgical intervention. Pathology-related decisions should be made under consideration of the different surgical techniques.
莫尔基奥A综合征或IVA型黏多糖贮积症（MPS IVA）是一种由N - 乙酰半乳糖胺 - 6 - 硫酸酯酶缺乏引起的进行性溶酶体贮积病。除其他医学问题外，糖胺聚糖的异常代谢导致由骨骺软骨软骨内成骨功能障碍引起的各种骨骼疾病。严重的髋关节发育不良很常见，可导致疼痛和活动能力受损。
我们报告一名患有MPS IVA的15岁女孩。5岁时首次出现髋关节疼痛和步行距离缩短。9岁时，诊断出髋臼股骨发育不良合并膝外翻。在对髋关节进行包括X线平片、磁共振成像和动态测试的关节造影等术前评估后，进行了股骨近端外翻截骨术联合髋臼造盖术。对该患者进行了6年的随访，髋关节稳定，无任何再脱位迹象。
文献中描述了一些MPS IVA患者髋关节发育不良的治疗策略。用于先天性髋关节发育不良的技术，即股骨内翻联合彭伯顿、索尔特或髋臼造盖术，已有广泛报道。然而，在某些病例中仍有再半脱位的描述。对于MPS IVA患者，文献中未报道股骨近端外翻这种著名的手术方法。我们认为，对于这个特殊问题，在手术干预前应强烈考虑进行关节造影动态测试。应在考虑不同手术技术的情况下做出与病理相关的决策。
