Al Kaissi Ali, Klaushofer Klaus, Grill Franz
Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.
Cases J. 2008 Dec 22;1(1):410. doi: 10.1186/1757-1626-1-410.
Morquio syndrome is an autosomal recessive lysosomal storage disorder, a mucopolysaccharidosis (PMS), characterized by abnormal metabolism of glycosaminoglycans. Major treatable concerns in patients with MPS type IV involve C1 to C2 instability, genu valgum, and hip subluxation. All patients demonstrate characteristic acetabular dysplasia and failure of ossification of the superolateral femoral head.
We report on a 6-year-old boy whose prime presentation was a waddling gait associated with pain since early childhood. Radiographic documentation showed progressive acetabulo-femoral dysplasia associated with additional skeletal deformities. Laboratory investigations showed increased urinary keratan sulfate and reduced leukocyte enzymatic activity of N-Acetyl-Galaktosamin-6-sulfate-sulfatase. Mucopolysaccharoidosis type IV A (Morquio syndrome) has been identified.
Patients with Morquio syndrome usually appear normal at birth but exhibit growth failure and spondyloepiphyseal dysplasia as infants. Most children are brought to a physician for investigation of what the parents perceive as an abnormal appearance by 12 to 18 months of age and thoracic kyphosis is supposed to be the first appearing deformity. In our present patient progressive acetabular dysplasia was the prime orthopaedic presentation causing effectively the development of a painful waddling gait.
莫尔基奥综合征是一种常染色体隐性溶酶体贮积症，属于黏多糖贮积症（MPS），其特征为糖胺聚糖代谢异常。IV型黏多糖贮积症患者主要的可治疗问题包括C1至C2椎体不稳定、膝外翻和髋关节半脱位。所有患者均表现出典型的髋臼发育不良以及股骨头上外侧骨化失败。
我们报告了一名6岁男孩，其主要表现为自幼出现的蹒跚步态伴疼痛。影像学检查显示髋臼-股骨发育不良进展，并伴有其他骨骼畸形。实验室检查显示尿中硫酸角质素增加，N-乙酰半乳糖胺-6-硫酸硫酸酯酶的白细胞酶活性降低。已确诊为IV A型黏多糖贮积症（莫尔基奥综合征）。
莫尔基奥综合征患者出生时通常外观正常，但婴儿期会出现生长发育迟缓及脊椎骨骺发育不良。大多数患儿在12至18个月大时因家长认为外观异常而被带到医生处检查，胸椎后凸被认为是最早出现的畸形。在我们目前的患者中，进行性髋臼发育不良是主要的骨科表现，有效地导致了疼痛性蹒跚步态的出现。
