2岁男孩复发性腹股沟斜疝伴发育落后

A 2-Year-Old Boy with Recurrent Inguinal Hernia and Developmental Delays

摘要: 患儿男，2岁11个月，复发性腹股沟疝1年余伴生长发育落后，体查生长发育落后，头大、矮小、手指短粗、皮肤黑、前额突出、弱视、肝大。实验室结果：心脏彩超示：心功能：EF：68%，FS：38%，二尖瓣、主动脉瓣瓣叶稍厚，主动脉瓣口前向流速稍快，二尖瓣、三尖瓣轻度反流，左室功能测值正常范围。腹部彩超示：肝大，副脾。裂隙灯检查见结膜无充血，角膜透明。IDS (Iduronate 2-Sulfatase)酶水平检测：0.8 nmol/h/ml。完善基因检测：发现IDS基因存在半合子突变，最终确诊为：1. 黏多糖贮积症II型；2. 左侧腹股沟斜疝。该病临床察觉较困难，早期易漏诊，该患儿起病至今历时2年余才确诊，因此当患儿出生后出现面部粗糙、发育迟缓、智力迟钝、生长迟缓、听力损失、心脏瓣膜增厚、肝脾肿大以及脐疝和腹股沟疝，需警惕黏多糖贮积症Ⅱ型，尽快完善尿GAGS，IDS酶来协助诊断，指导治疗，必要时完善基因检测以确诊。

Abstract: A boy, 2 years old 11 months, was diagnosed with recurrent inguinal hernia for more than 1 year with growth and development backward, physical examination growth and development backward, head big, small, short thick fingers, dark skin, forehead prominent, amblyopia, large liver. Laboratory Results: Color Doppler showed echocardiography: cardiac function: EF: 68%, FS: 38%, mitral valve, aortic valve slightly thick, aortic valve anterior flow velocity slightly faster, mitral valve, tri-cuspid valve mild regurgitation, and left ventricular function measured normal range. Abdominal Color Doppler: large liver, accessory spleen. Slit-lamp examination showed no conjunctival congestion and corneal transparency. Detection of IDS Enzyme Level: 0.8 NMOL/H/ML. Perfect Gene Detection: Detection of IDS gene had a semi-zygote mutation. The final diagnosis was: 1. Mucopolysaccharidosis; 2. Left inguinal hernia. The disease is difficult to be detected clinically and easy to be missed in the early stage. It took more than 2 years for the child to be diagnosed. So when a child is born with facial roughness, stunted growth, mental retardation, growth retardation, hearing loss, heart valve thickening, hepatosplenomegaly, and umbilical and inguinal hernias, be on alert for muco-polysaccharidosis type II. Urinary GAGS and IDS should be conducted as soon as possible to help the diagnosis, guide treatment, and if necessary, improve gene detection to confirm the diagnosis.