Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Av. Cuauhtémoc 330, Col. Doctores C.P. 06720, México D.F., Mexico.
J Pediatr Urol. 2013 Feb;9(1):e12-8. doi: 10.1016/j.jpurol.2012.05.017. Epub 2012 Jun 30.
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) was first described in 1976. A rare congenital autosomal recessive alteration that predominantly affects females (4:1 ratio), it is characterized by the presence of distended bladder (without distal urinary tract obstruction), microcolon, and decreased or absent intestinal peristalsis. Inconsistent and non-specific histological changes affecting the bladder and intestinal smooth muscle, and intrinsic innervations, have been reported most frequently. MMIHS usually has a fatal prognosis in the first year of life; nevertheless there are some case reports of longer survival. Here is presented the case report of a boy with a diagnosis of MMIHS who has achieved prolonged survival, followed by a review of the literature.
巨膀胱-小结肠-肠蠕动不良综合征（MMIHS）于 1976 年首次描述。这是一种罕见的先天性常染色体隐性改变，主要影响女性（4:1 比例），其特征为膀胱膨胀（无远端尿路梗阻）、小结肠和肠蠕动减少或消失。最常报告的是影响膀胱和肠平滑肌以及内在神经支配的不一致和非特异性组织学变化。MMIHS 通常在出生后的第一年就有致命的预后；然而，也有一些关于更长生存时间的病例报告。这里报告了一例诊断为 MMIHS 的男孩，他实现了长期生存，并对文献进行了回顾。
