Faculty of Medicine, Maranatha Christian University, Suria Sumantri 65, Bandung, West Java, 40164, Indonesia.
Unggul Karsa Medika Teaching Hospital, Taman Kopo Indah III Block H-1, Bandung, West Java, 40218, Indonesia.
J Med Case Rep. 2023 Jul 5;17(1):308. doi: 10.1186/s13256-023-03986-y.
Hirschsprung's disease is a congenital disorder identified by the absence of ganglion cells at the Meissner's plexus of the submucosa and Auerbach's plexus of the muscularis. This disease can be found in approximately 1 in 5000 live births. It is a congenital disorder that is rarely diagnosed in adults, where 95% of cases are diagnosed in infants aged under 1 year old. Here we present a rare case of adult Hirschsprung's disease to enrich the body of knowledge in diagnosing adult patients with chronic refractory constipation symptoms.
An 18-year-old Indonesian woman came to the general surgery department of Unggul Karsa Medika Teaching Hospital with a defecating problem (constipation) since childhood. There was no history of her passage of meconium. A contrast enema study showed that the sigmoid colon was dilated and the rectum was narrowed, with rectosigmoid index < 1. With these findings, it was suspected that the patient may have ultra-short segment Hirschsprung's disease. The patient was then referred to the digestive surgery department of referral hospital for surgical treatment.
In adult patients presenting with history of constipation since childhood, it is necessary to consider the possibility of Hirschsprung's disease that was not diagnosed in early childhood. Hirschsprung's disease in adults is usually a short or ultra-short aganglionic segment because it shows relatively mild symptoms. Surgical removal of the aganglionic segment of the gut is the definitive treatment for Hirschsprung's disease.
先天性巨结肠是一种以黏膜下 Meissner 神经丛和肌间 Auerbach 神经丛缺乏神经节细胞为特征的先天性疾病。这种疾病在活产儿中约每 5000 例中就有 1 例。这是一种在成人中罕见的先天性疾病，95%的病例发生在 1 岁以下的婴儿。本文报告 1 例成人先天性巨结肠病例，旨在丰富成人慢性难治性便秘患者的诊断知识。
一名 18 岁印度尼西亚女性因自幼排便问题（便秘）就诊于 Unggul Karsa Medika 教学医院普外科。她无胎便排出史。对比灌肠研究显示乙状结肠扩张，直肠狭窄，直肠乙状结肠指数＜1。根据这些发现，怀疑患者可能患有超短段先天性巨结肠。患者随后被转至转诊医院的消化外科进行手术治疗。
对于自幼有便秘史的成年患者，有必要考虑到早期未被诊断出的先天性巨结肠的可能性。成人先天性巨结肠通常为短段或超短段无神经节细胞段，因为其症状相对较轻。肠道无神经节细胞段的切除是先天性巨结肠的根治性治疗方法。
