PDF(Pubmed)
Abstract：
Hirschsprung\'s disease (HD) is a congenital gastrointestinal condition characterized by the lack of ganglion cells within the submucosal and myenteric nervous plexuses in the large intestine. This results in a dysfunctional segment of the large colon, resulting in symptoms such as failure to pass meconium, constipation, and dilated loops of the bowel. The vast majority of patients are diagnosed during the neonatal period, but a handful can be diagnosed later into childhood and adolescence. A rare subset is diagnosed during adulthood, in which the section of the aganglionic colon is minimal yet symptomatic. We report the case of a 54-year-old female presenting with dilated loops of bowel and a remote history of severe constipation, recurrent bowel obstructions, previous left hemicolectomy, and an improvement of symptoms following the procedure. Upon further workup, she was diagnosed with HD, raising the question of whether there should be increased testing for this condition in adults. This case can serve as an example of the need for a more in-depth workup of severe constipation in adults, as the finding for HD in adults is rare but still possible.
摘要：
Hirschsprung病（HD）是一种先天性胃肠道疾病，其特征是大肠粘膜下层和肌间神经丛中缺乏神经节细胞。这导致大结肠的功能失调，导致无法通过胎粪等症状，便秘,和扩张的肠环。绝大多数病人是在新生儿期确诊的,但是少数可以在儿童和青少年时期被诊断出来。在成年期被诊断出一个罕见的子集，其中神经节结肠部分最小但有症状。我们报告了一例54岁的女性，表现为肠道扩张和严重便秘的远程病史，复发性肠梗阻,先前的左半结肠切除术，以及手术后症状的改善。在进一步的工作中，她被诊断出患有HD,提出了是否应该在成人中增加对这种情况的检测的问题。这种情况可以作为需要更深入地检查成人严重便秘的一个例子，因为在成人中发现HD是罕见的，但仍然可能。
