Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：全结肠神经节病是赫氏弹簧病的一种极其罕见的变种，这在男性中占主导地位，可以在1:50,000活产中看到。所呈现的案例不仅描述了一个罕见的案例，但也是不寻常的临床，实验室,和仪器数据。
方法：一名2天大的高加索女性新生儿从产科转入我院。最初的表现是反向蠕动，腹胀,无法通过大便。在患者转移之前，发烧已经开始。Hirschsprung病被怀疑,并进行了对比剂灌肠和直肠抽吸活检等检查。在肠造口术前,这种疾病的管理包括液体复苏，结肠灌溉,抗生素管理，肠内喂养，和支持性治疗。在回肠造口术中,未观察到过渡区,并从直肠和降结肠获取全层活检样本.手术干预后,状态显着改善-退热和体重增加最重要的改善。
结论：众所周知，全结肠神经节病的诊断可能会延迟数月甚至数年，因为过渡区可能不可见，直肠抽吸活检，与全层活检不同,并不总是可靠的。最好不要因为放射线照相术和直肠抽吸活检而脱轨。此外，如果体征和症状开始与先天性巨结肠相关性小肠结肠炎一致，医生应该对这种疾病更加怀疑，尽管活检和放射学结果。
方法：一名2天大的高加索女性新生儿从产科转入我院。最初的表现是反向蠕动，腹胀,无法通过大便。在患者转移之前，发烧已经开始。Hirschsprung病被怀疑,并进行了对比剂灌肠和直肠抽吸活检等检查。在肠造口术前,这种疾病的管理包括液体复苏，结肠灌溉,抗生素管理，肠内喂养，和支持性治疗。在回肠造口术中,未观察到过渡区,并从直肠和降结肠获取全层活检样本.手术干预后,状态显着改善-退热和体重增加最重要的改善。
结论：众所周知，全结肠神经节病的诊断可能会延迟数月甚至数年，因为过渡区可能不可见，直肠抽吸活检，与全层活检不同,并不总是可靠的。最好不要因为放射线照相术和直肠抽吸活检而脱轨。此外，如果体征和症状开始与先天性巨结肠相关性小肠结肠炎一致，医生应该对这种疾病更加怀疑，尽管活检和放射学结果。
