Clinicopathological studies on the diagnosis, the treatment and the pathogenesis if pseudo-Hirschsprung's disease and related disorders

通过日本文部科学省合作研究资助(A)项目（03304037）收集了近20年来130例先天性肠运动功能障碍病例。该疾病被定义为先天性的，非机械性的肠梗阻，在直肠边缘存在壁内神经节。腹壁神经节异常86例，正常37例，不能确定8例。腹壁神经节异常27例为未成熟神经节，29例为神经节减少症，20例为未成熟神经节和神经节减少症，5例为神经性肠发育不良，2例为节段性异常。在肌丛正常的患者中，15例有慢性特发性肠假性梗阻综合征（CIIPS）， 11例有巨细胞炎-微结肠肠肥大综合征（MMIHS）。多数先天性肠运动功能障碍无神经节病的患者乙酰胆碱酯酶活性正常。腹壁神经节正常的患者直肠肛管反射正常，而神经节过低症或神经节不成熟症患者的直肠肛管反射锁定明显增多。未成熟神经节病患者预后良好，而低神经节病、CIIPS和MMIHS患者预后较差。我们将假性巨结肠病定义为先天性肠运动功能障碍患者的腹壁神经节异常组。这些发现表明，假性巨结肠病仍然是儿童的一种严重疾病。

On hundred and thirty cases congenital intestinal motor dysfunction were collocted by number of Grant-in Aid for Co-operative Research (A) (No.03304037) from the Ministry of Education, Science and Culture, Japan during the post 20 years. The disorder was defined as a congenital, non-mechanical obstruction of the intestine with the presence of intramural ganglia in the triminal rectum. Intramural ganglia were abnormal in 86 cases, normal in 37, and could not be determined in 8. Of those with abnormal intramural ganglia, 27 had immature ganglia, 29 had hypoganglionosis, 20 had both the immature ganglia and hypoganglionosis, 5 had neuronal intestinal dysplasia, and 2 had a segmental anomaly. Of those with a normal myenteric plexus, 15 had chronic idiopathic intestinal pseudo-obstruction syndrome (CIIPS) and 11 had megacytis-microcolon intestinal hyperristalsis syndrome (MMIHS). Most cases congenital intestinal motor dysfunction without aganglionosis had normal acetylcholinesterase activity. While cases with normal intramural ganglia had normal rectoanal reflex, a significantly greater number of patients with hypoganglionosis or immature ganglionosis locked rectoanal reflex. While patients with immature ganglionosis had good prognosis, patients with hypoganglionosis, CIIPS and MMIHS had poor prognosis. We define pseudo-Hirschsprung's disease as abnormal group of intramural ganglia among cases with congential intestinal motor dysfunction. These findings indicate that psudo-Hirschsprung's disease remains a serious disease of childhood.