Gadve Sharvil S, Sarma Dipti, Saikia Uma K
Department of Endocrinology, Gauhati Medical College, Guwahati, Assam, India.
Indian J Endocrinol Metab. 2012 May;16(3):453-6. doi: 10.4103/2230-8210.95712.
A 7-year-old boy presented with umbilical hernia and short stature. Growth retardation, recurrent upper respiratory tract infections and delayed developmental milestones were present from infancy. Umbilical hernia was diagnosed at the age of 5 years. On examination, he had short-trunk dwarfism, large head circumference, coarse facial features, joint stiffness, hepatosplenomegaly, and mild mental retardation. He had normal biochemical parameters, thyroid function tests and arterial blood gas analysis. Radiological evaluation showed that the child had Hunter syndrome with findings of J-shaped sellaturcica, proximal bulleting of metacarpals, spatulated ribs and anterior beaking of lumbar vertebrae. The second case was a 6-year-old girl with umbilical hernia, short stature, normal biochemistry and radiological findings of mucopolysaccharidosis. However, she also had corneal opacity; confirmed by slit-lamp examination, which led to the diagnosis of Hurler-Scheie syndrome. Enzymatic studies could not be done in both the cases, as they are not available at most centers.
一名7岁男孩患有脐疝和身材矮小。自婴儿期起就存在生长发育迟缓、反复上呼吸道感染和发育里程碑延迟的情况。脐疝在5岁时被诊断出来。检查发现，他有短躯干侏儒症、头围增大、面部特征粗糙、关节僵硬、肝脾肿大以及轻度智力障碍。他的生化参数、甲状腺功能测试和动脉血气分析均正常。影像学评估显示，该患儿患有亨特综合征，表现为蝶鞍呈J形、掌骨近端膨大、肋骨呈匙状以及腰椎椎体前缘喙突。第二例是一名6岁女孩，患有脐疝、身材矮小，生化指标正常，影像学表现为黏多糖贮积症。然而，她还患有角膜混浊，经裂隙灯检查确诊，这导致了胡尔勒-谢伊综合征的诊断。由于大多数中心都无法进行酶学研究，这两例患者均未进行此项检查。
