Sreedher Gayathri, Garrison Aaron, Novak Robert, Keisling Matthew, Ganapathy Shankar Srinivas
Department of Radiology, Akron Childrens Hospital, Akron, OH, USA.
Department of Surgery, University of Cincinnati, Cincinnati Children's hospital, OH, USA.
Radiol Case Rep. 2018 Nov 3;14(2):171-174. doi: 10.1016/j.radcr.2018.10.007. eCollection 2019 Feb.
Intestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirschsprung's disease. We present this case of congenital intestinal hypoganglionosis detailing the neonatal course, due to its rarity and the conundrums faced before an eventual diagnosis could be rendered. This case also illustrates the role of full thickness rectal biopsy in selected cases such as ours where the radiologic features are typical of Hirschsprung's, despite negative suction biopsies.
肠道神经节减少症或孤立性神经节减少症是一种罕见的病症,其临床和放射学表现可在新生儿期模仿先天性巨结肠。对于这种病症的诊断可能具有挑战性,因为用于诊断先天性巨结肠的标准方法是直肠吸引活检。我们呈现这例先天性肠道神经节减少症病例,详细描述其新生儿期病程,因其罕见性以及在最终确诊前所面临的难题。该病例还说明了全层直肠活检在某些病例中的作用,比如我们这个病例,尽管直肠吸引活检结果为阴性,但放射学特征却符合先天性巨结肠。