Rayamajhi A, Pokharel P J, Chapagain R, Rayamajhi A K
National Academy of Medical Sciences, Department of Pediatrics, Kanti Children's Hospital, Maharajgunj, Kathmandu.
Department of Obstetrics and Gynaecology, B & B Hospital, Gwarko, Lalitpur, Nepal.
J Nepal Health Res Counc. 2013 Sep;11(25):293-5.
Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death. Severe subtype develops characteristic clinical features and cognitive impairment early and die in second decade of life. In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis multiplex on X-ray with unusual large congenital inguinal hernia. The diagnosis was important because of risk of recurrence of hernia after repair.
II型粘多糖贮积症（亨特综合征）是一种罕见的X连锁隐性遗传性贮积病，由溶酶体酶艾杜糖醛酸-2-硫酸酯酶缺乏所致，导致糖胺聚糖在溶酶体中过度蓄积，进而引起细胞损伤、器官衰竭和死亡。重型亚型患者早期会出现典型的临床特征和认知障碍，多在生命的第二个十年死亡。在资源匮乏地区，我们报告了一例重型亨特综合征病例，该病例基于全面发育迟缓、面容粗糙、身材矮小、肝脾肿大以及X线显示的多发性骨发育异常，同时伴有罕见的巨大先天性腹股沟疝。由于疝修补术后存在复发风险，因此该诊断具有重要意义。
