目的报告1例肾病综合征、小头畸形、精神运动发育落后GallowayMowat综合征患儿,并进行文献复习。方法患儿(男,13岁)于2004年6月14日入院,根据病史、症状、体征、尿检、血清学及肾组织病理检查结果,结合文献进行分析。结果患儿以血尿、蛋白尿起病,小头畸形伴精神运动发育落后,后出现肾病综合征及肾功能不全,肾活检为局灶节段肾小球硬化。结论肾病综合征伴小头畸形、精神运动发育落后的患儿为GallowayMowat综合征,其肾病综合征出现越早预后越差。 Objective To report a case of nephrotic syndrome, microcephaly, and mental retardation in children with GallowayMowat syndrome and review the literature. Methods Children (male, 13 years old) were admitted on June 14, 2004 and analyzed according to their medical history, symptoms, signs, urinalysis, serology and pathological examination of kidney. Results Hematuria, proteinuria in children with onset, microcephaly with mental retardation, nephrotic syndrome and renal insufficiency, renal biopsy for focal segmental glomerulosclerosis. Conclusion Nephrotic syndrome with microcephaly deformity, mental retardation of children with GallowayMowat syndrome, the sooner the nephrotic syndrome prognosis worse.