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

根据日本文部科学省合作研究资助（A）号（No.03304037），收集了近20年来130例先天性肠运动功能障碍患者。该疾病被定义为先天性，非机械性肠梗阻，并在直肠三尖瓣内存在壁内神经节。壁内神经节异常86例，正常37例，不能确定8例。在壁内神经节异常的患者中，27例为未成熟神经节，29例为神经节发育不良，20例同时为未成熟神经节和神经节发育不良，5例为肠神经元发育不良，2例为节段性异常。在肌间神经丛正常的患者中，15例患有慢性特发性假性肠梗阻综合征（CIPS），11例患有巨细胞-小结肠肠增生综合征（MMIHS）。无神经节细胞缺乏症的先天性肠运动功能障碍者乙酰胆碱酯酶活性大多正常。而正常的壁内神经节的情况下，正常的直肠肛门反射，一个显着更多的患者与hypoganglionosis或不成熟的神经节病锁定直肠肛门反射。未成熟神经节细胞增生症患者预后较好，神经节细胞减少症、CIIPS和MMIHS患者预后较差。我们将假性先天性巨结肠定义为先天性肠运动功能障碍病例中的肠壁内神经节异常组。这些发现表明，假先天性巨结肠症仍然是一个严重的疾病的儿童。

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.