Department of Pediatric Surgery, Izmir Tepecik Training and Research Hospital, Izmir, Turkey.
Department of Pediatric Surgery, Izmir Kâtip Çelebi University, Izmir, Turkey.
Pediatr Surg Int. 2023 Dec 18;40(1):22. doi: 10.1007/s00383-023-05604-w.
The coexistence of Hirschsprung's disease (HD) with anorectal malformation (ARM) is rare but many surgeons still ask pathologists to look for ganglia in the terminal rectum or fistula. In this study, we aimed to highlight the rarity of this association and question the necessity of histological evaluation.
After obtaining board review approval, rectal specimens of ARM patients who underwent corrective surgery in the last 8 years were re-analyzed by two blinded pathologists for the presence and structure of ganglia. Clinical and radiological data of patients retrieved from center records and correlated with histopathologic findings.
67 patients with ARM were identified, distal rectal specimen was obtained in 47. The median age at the time of surgery was 11 months (2 days-59 months). A normal pattern of ganglia was present in 51.1% (24/47), 29.7% (14/47) had aganglionosis and 19.1% (9/47) were inconclusive due to insufficient material. None of the aganglionic specimens showed other histological findings of HD. Patients were followed up regularly in the outpatient colorectal clinic for a median of 87 months (42-117 m). Only 6 experienced severe constipation (3 ganglionic, 2 no biopsy, 1 aganglionic), all of whom responded to a bowel management program, and none developed other manifestations of HD (abdominal distension, failure to thrive or enterocolitis) or required additional surgery.
Our results strongly suggest that the association of ARM and HD is extremely rare and the practice of searching for ganglia in the distal rectum or fistula of ARM patients should be discouraged to avoid potential misdiagnosis and overtreatment.
先天性巨结肠（HD）合并肛门直肠畸形（ARM）的情况较为罕见，但仍有许多外科医生要求病理医生在直肠末端或瘘管寻找神经节。本研究旨在强调这种关联的罕见性，并质疑组织学评估的必要性。
在获得委员会审查批准后，由两名盲法病理医生重新分析过去 8 年内接受矫正手术的 ARM 患者的直肠标本，以评估神经节的存在和结构。从中心记录中检索患者的临床和放射学数据，并与组织病理学发现相关联。
共确定了 67 例 ARM 患者，其中 47 例获得了远端直肠标本。手术时的中位年龄为 11 个月（2 天至 59 个月）。51.1%（24/47）的标本存在正常神经节模式，29.7%（14/47）存在无神经节细胞病变，19.1%（9/47）由于标本量不足而无法明确诊断。无神经节细胞病变的标本均未显示 HD 的其他组织学表现。患者在肛肠门诊定期随访，中位随访时间为 87 个月（42-117 个月）。仅 6 例患者出现严重便秘（3 例神经节细胞病变，2 例未进行活检，1 例无神经节细胞病变），所有患者均对肠道管理方案有反应，且均未出现 HD 的其他表现（腹胀、生长发育迟缓或结肠炎）或需要进一步手术。
我们的结果强烈表明，ARM 和 HD 的关联极为罕见，应避免在 ARM 患者的远端直肠或瘘管中寻找神经节，以避免潜在的误诊和过度治疗。
