Introduction

Diagnostic delay in Hirschsprung disease is uncommon. Different definitions have been proposed but that of a diagnosis achieved after 12 months of age seems to be the most reliable and resorted to. Some authors reported a worse outcome in case of delay. Our study aims at providing the most relevant features of a series of patients who received a delayed diagnosis of Hirschsprung disease.

Materials and methods

All consecutive patients admitted to our Center with a delayed diagnosis of Hirschsprung diseases between January 2017 and July 2023 have been retrospectively enrolled. Demographic data, phenotype, genotype, surgical complications, and outcome were assessed and compared to those of literature. A number of variables were also compared to those of a series of patients admitted during the same study period without a delayed diagnosis.

Results

A total of 45 patients were included (16.4% out of a series of 346 patients with data regarding age at diagnosis). Male to female ratio was 3.1:1. Median age at diagnosis was 41 months with a wide variation (range between 17 months and 58 years). All patients but 2 suffered from classic rectosigmoid aganglionosis. Normal meconium passage (58%) was reported in a significantly higher number of patients compared to what observed in a series without diagnostic delay (p = 0.0140). All other variables (associated anomalies, preoperative enterocolitis, complications, and functional outcome) proved not to have statistically significant differences compared to a series of patients without a diagnostic delay.

Conclusions

The results of our study underline that a significant percentage of patients are basically missed in the neonatal period mostly due to mild symptoms. Overall outcome does not differ from that of patients without diagnostic delay. Nonetheless, we underline the importance of a throughout investigation of all patients with meconium delay/failure and that of adopting a low threshold for performing rectal suction biopsies in constipated children to avoid misdiagnosis to serve the best for our patients.

中文翻译：

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先天性巨结肠症的延迟诊断

介绍

先天性巨结肠的诊断延迟并不常见。人们提出了不同的定义，但 12 个月大后做出的诊断似乎是最可靠和最常用的。一些作者报告说，如果延误的话，结果会更糟。我们的研究旨在提供一系列延迟诊断为先天性巨结肠的患者的最相关特征。

材料和方法

2017 年 1 月至 2023 年 7 月期间连续入院的所有延迟诊断为先天性巨结肠的患者均已被回顾性纳入。对人口统计数据、表型、基因型、手术并发症和结果进行了评估，并与文献中的数据进行比较。还将许多变量与同一研究期间入院且未延迟诊断的一系列患者的变量进行了比较。

结果

总共纳入了 45 名患者（在 346 名患者中，有 16.4% 的患者具有诊断时年龄的数据）。男女比例为3.1:1。诊断时的中位年龄为 41 个月，差异很大（范围在 17 个月至 58 岁之间）。除 2 名患者外，所有患者均患有典型的直肠乙状结肠无神经节症。与没有诊断延迟的系列观察到的情况相比，报告正常胎便排出（58%）的患者数量显着增加（p  = 0.0140）。事实证明，与一系列没有诊断延迟的患者相比，所有其他变量（相关异常、术前小肠结肠炎、并发症和功能结果）没有统计学上的显着差异。

结论

我们的研究结果强调，相当大比例的患者在新生儿期基本上被漏诊，主要是由于轻微症状。总体结果与没有诊断延迟的患者没有差异。尽管如此，我们强调对所有胎便延迟/失败的患者进行全面调查的重要性，并采用较低的阈值对便秘儿童进行直肠抽吸活检，以避免误诊，为我们的患者提供最好的服务。