Puri Prem, Gosemann Jan-Hendrik
National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
Semin Pediatr Surg. 2012 Nov;21(4):310-8. doi: 10.1053/j.sempedsurg.2012.07.005.
Variants of Hirschsprung disease are conditions that clinically resemble Hirschsprung disease, despite the presence of ganglion cells in rectal suction biopsies. The characterization and differentiation of various entities are mainly based on histologic, immunohistochemical, and electron microscopy findings of biopsies from patients with functional intestinal obstruction. Intestinal neuronal dysplasia is histologically characterized by hyperganglionosis, giant ganglia, and ectopic ganglion cells. In most intestinal neuronal dysplasia cases, conservative treatments such as laxatives and enema are sufficient. Some patients may require internal sphincter myectomy. Patients with the diagnosis of isolated hypoganglionosis show decreased numbers of nerve cells, decreased plexus area, as well as increased distance between ganglia in rectal biopsies, and resection of the affected segment has been the treatment of choice. The diagnosis of internal anal sphincter achalasia is based on abnormal rectal manometry findings, whereas rectal suction biopsies display presence of ganglion cells as well as normal acetylcholinesterase activity. Internal anal sphincter achalasia is either treated by internal sphincter myectomy or botulinum toxin injection. Megacystis microcolon intestinal hypoperistalsis is a rare condition, and the most severe form of functional intestinal obstruction in the newborn. Megacystis microcolon intestinal hypoperistalsis is characterized by massive abdominal distension caused by a largely dilated nonobstructed bladder, microcolon, and decreased or absent intestinal peristalsis. Although the outcome has improved in recent years, survivors have to be either maintained by total parenteral nutrition or have undergone multivisceral transplant. This review article summarizes the current knowledge of the aforementioned entities of variant HD.
先天性巨结肠变异型是指临床上类似于先天性巨结肠的疾病，尽管直肠吸引活检中存在神经节细胞。各种实体的特征和鉴别主要基于功能性肠梗阻患者活检的组织学、免疫组织化学和电子显微镜检查结果。肠道神经元发育异常在组织学上的特征是神经节细胞增多、巨大神经节和异位神经节细胞。在大多数肠道神经元发育异常病例中，使用泻药和灌肠等保守治疗就足够了。一些患者可能需要进行内括约肌肌切除术。诊断为孤立性神经节细胞减少症的患者在直肠活检中显示神经细胞数量减少、神经丛面积减小以及神经节之间的距离增加，切除受累节段一直是首选治疗方法。肛门内括约肌失弛缓症的诊断基于直肠测压异常结果，而直肠吸引活检显示存在神经节细胞以及正常的乙酰胆碱酯酶活性。肛门内括约肌失弛缓症可通过内括约肌肌切除术或肉毒杆菌毒素注射进行治疗。巨膀胱小结肠肠蠕动减弱是一种罕见的疾病，是新生儿中最严重的功能性肠梗阻形式。巨膀胱小结肠肠蠕动减弱的特征是由高度扩张的非梗阻性膀胱、小结肠以及肠道蠕动减弱或消失引起的大量腹胀。尽管近年来预后有所改善，但幸存者必须通过全胃肠外营养维持或接受多脏器移植。这篇综述文章总结了上述先天性巨结肠变异型实体的当前知识。
