Department of Pediatric Surgery, Grigore Alexandrescu Emergency Clinical Hospital for Children, Bucharest, Romania.
Department of Plastic and Reconstructive Surgery, Pediatric Surgery, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
J Med Life. 2024 Jun;17(6):644-648. doi: 10.25122/jml-2024-0307.
Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the colon, resulting in impaired peristalsis and functional intestinal obstruction. This condition affects approximately 1 in 5,000 newborns, with a higher prevalence in boys. Although first identified in the 17 century, its connection to chronic constipation was clearly established by Harald Hirschsprung in 1886. Contemporary treatment strategies emphasize early diagnosis, surgical excision of the aganglionic segment, and specialized postoperative care to restore normal colonic function and improve the quality of life for affected individuals. This article reviews current therapeutic strategies, highlighting advanced surgical techniques, diagnostic methods, and postoperative management. Two clinical cases illustrate the impact and treatment of the disease. The first case involves a 5-month-old male with severe malnutrition, dehydration, and acute enterocolitis, who underwent a right-side colostomy and later a Duhamel-type extramucosal sphincter-rectal-myotomy, showing favorable progress. The second case is a 1.5-year-old patient with a history of colostomy and ileostomy, requiring further surgery. Histopathological examinations in both cases revealed the absence of ganglion cells, confirming the diagnosis of Hirschsprung's disease.
先天性巨结肠是一种先天性疾病,其特征是结肠的肌间和黏膜下神经丛中没有神经节细胞,导致蠕动功能受损和功能性肠梗阻。这种情况在大约每 5000 个新生儿中就会发生 1 例,男孩的发病率更高。尽管它在 17 世纪就首次被发现,但直到 1886 年 Harald Hirschsprung 才明确其与慢性便秘的关联。目前的治疗策略强调早期诊断、无神经节细胞段的外科切除以及专门的术后护理,以恢复正常的结肠功能并提高受影响个体的生活质量。本文回顾了当前的治疗策略,重点介绍了先进的手术技术、诊断方法和术后管理。两个临床病例说明了该疾病的影响和治疗方法。第一个病例是一名 5 个月大的男性,患有严重的营养不良、脱水和急性肠炎,接受了右侧结肠造口术,后来又进行了 Duhamel 型黏膜外括约肌直肠肌切开术,病情好转。第二个病例是一名 1.5 岁的患者,曾接受过结肠造口术和回肠造口术,需要进一步手术。两个病例的组织病理学检查均显示没有神经节细胞,从而确诊为先天性巨结肠。