Lashley D B, Masliah E, Kaplan G W, McAleer I M
Division of Urology, University of California, San Diego, School of Medicine, San Diego, California, USA.
Urology. 2000 May 1;55(5):774. doi: 10.1016/s0090-4295(00)00499-4.
We report a case of a 46,XY male infant with a history of normal amniotic fluid levels who was delivered by elective cesarean section at 38.5 weeks' gestation because of progressive bladder distension, hydroureteronephrosis, and what was thought to be a dilated posterior urethra. The child died at 19 days of age of cardiovascular complications. The autopsy revealed megacystis, bilateral megaureters and pyelocaliectasis, congenital absence of ganglion cells in the bladder wall, renal dysplasia, and a microcolon. No dilation or anatomic obstruction of the posterior urethra was found. These findings strongly suggest the diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome. We discuss the ultrasound findings of in utero bladder distension with hydronephrosis and one of its rare etiologies.
我们报告一例46,XY男性婴儿，羊水水平正常，因进行性膀胱扩张、肾盂输尿管积水以及疑似后尿道扩张，于妊娠38.5周时择期剖宫产娩出。该患儿于19日龄时死于心血管并发症。尸检发现巨膀胱、双侧巨输尿管和肾盂肾盏扩张、膀胱壁神经节细胞先天性缺失、肾发育不良以及小结肠。未发现后尿道扩张或解剖学梗阻。这些发现强烈提示诊断为巨膀胱小结肠肠蠕动不良综合征。我们讨论了宫内膀胱扩张伴肾积水的超声表现及其罕见病因之一。
