The University of Georgia, Kostava 77a, Tbilisi, 0171, Georgia.
Evex Hospitals - Irakli Tsitsishvili Children's Clinic, Lubliana 23, Tbilisi, 0179, Georgia.
J Med Case Rep. 2023 Apr 8;17(1):128. doi: 10.1186/s13256-023-03832-1.
Total colonic aganglionosis is an extremely rare variant of Hirschsprung's disease, which is predominant in males and can be seen in 1:50,000 live births. The presented case not only depicts a rare case, but also unusual clinical, laboratory, and instrumental data.
A 2-day-old Caucasian female newborn was transferred to our hospital from maternity. The initial presentation was reverse peristalsis, abdominal distention, and inability to pass stool. Fever had started before the patient was transferred. Hirschsprung's disease was suspected, and tests such as contrast enema and rectal suction biopsy were done. Before enterostomy, the management of the disease included fluid resuscitation, colonic irrigation, antibiotic administration, enteral feeding, and supportive therapy. During ileostomy operation, no transition zone was visualized and full-thickness biopsy samples were retrieved from the rectum and descending colon. After surgical intervention, status significantly improved-defervescence and weight gain most importantly improved.
It is well known that diagnosis of total colonic aganglionosis may be delayed for months or even years since the transition zone may not be visible and rectal suction biopsy, unlike full-thickness biopsy, is not always reliable. It might be more prudent not to be derailed because of negative radiography and rectal suction biopsy. Also, doctors should be more suspicious of the disease if signs and symptoms are starting to be consistent with Hirschsprung-associated enterocolitis, despite biopsy and radiology results.
全结肠无神经节细胞症是一种极为罕见的先天性巨结肠症变异型，以男性为主，发病率约为 1/50000。本病例不仅表现出罕见的临床、实验室和影像学特征，而且还描述了一种不典型的临床表现。
一名 2 天龄的白人女婴从产科转入我院。最初的表现为逆行蠕动、腹胀和无法排便。在转院之前，患儿出现发热。考虑为先天性巨结肠症，进行了对比灌肠和直肠抽吸活检等检查。在进行肠造口术之前，对该疾病进行了液体复苏、结肠灌洗、抗生素治疗、肠内喂养和支持治疗。在进行肠造口术时，未见移行带，从直肠和降结肠获取全层活检样本。手术后，患儿病情显著改善，尤其是退热和体重增加。
众所周知，全结肠无神经节细胞症的诊断可能会延迟数月甚至数年，因为移行带可能不可见，而且直肠抽吸活检不像全层活检那样可靠。如果影像学和直肠抽吸活检结果为阴性，不要因为这些结果而偏离诊断思路可能更为谨慎。此外，如果出现与先天性巨结肠相关的结肠炎的症状和体征，尽管活检和影像学结果正常，医生也应该对该疾病保持更高的警惕性。
