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

作　　者：罗统 田鑫[1] 王江 贺湘玲[1] 

机构地区：[1]湖南师范大学/湖南师范大学附属第一医院儿童医学中心/湖南省人民医院,湖南 长沙

出　　处：《亚洲儿科病例研究》2022年第2期7-15,共9页Asian Case Reports in Pediatrics

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。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.

关 键 词：黏多糖贮积症II型 IDS酶 尿糖胺聚糖(GAGS) 复发性腹股沟疝 儿童 

分 类 号：R656.21[医药卫生—外科学]