Isolated hypoganglionosis (IHG) is histologically characterized by small numbers of myenteric ganglion cells and small myenteric ganglia; however, no numerical diagnostic criteria for IHG have been established. Therefore, this study aimed to develop quantitative pathologic criteria for IHG. We evaluated 160 resected intestinal tissue specimens from 29 pediatric autopsies and 10 IHG cases. These specimens were obtained from the jejunum, ileum, ascending colon, transverse colon, and rectum. Morphologic features of the myenteric ganglion cells and myenteric ganglia were quantified and analyzed in digitized HuC/HuD-immunostained and CD56-immunostained sections, respectively. Quantitative criteria were developed with a scoring system that used parameters with the area under the receiver operating characteristic curve (AUC) values >0.7 and sensitivity and specificity exceeding 70%. The selected parameters were the number of myenteric ganglion cells per cm and the number of myenteric ganglia with an area >2500 µm2per cm. The score for each parameter ranged from -1 to 2, and the total score of the scoring system ranged from -2 to 4. With a cutoff value of ≥2 (AUC, 0.98; 95% CI: 0.96-1.00), the scoring system had a sensitivity of 96% (95% CI: 0.82-1.00) and a specificity of 99% (95% CI: 0.95-1.00). We devised a novel pathologic criterion based on the quantification of the number of myenteric ganglion cells and ganglia. Furthermore, this criterion showed high diagnostic accuracy and could lead to a definitive diagnosis of IHG in clinical practice.

中文翻译：

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孤立性神经节减退症的新客观病理学标准。


孤立性神经节减退症 (IHG) 的组织学特征为少量肌间神经节细胞和小肌间神经节；然而，尚未制定 IHG 的数字诊断标准。因此，本研究旨在制定 IHG 的定量病理标准。我们评估了来自 29 例儿科尸检和 10 例 IHG 病例的 160 份切除肠道组织标本。这些标本取自空肠、回肠、升结肠、横结肠和直肠。分别在数字化 HuC/HuD 免疫染色和 CD56 免疫染色切片中对肌间神经节细胞和肌间神经节的形态特征进行量化和分析。定量标准是通过评分系统制定的，该评分系统使用受试者工作特征曲线下面积 (AUC) 值 >0.7 且灵敏度和特异性超过 70% 的参数。选定的参数是每厘米肌间神经节细胞的数量和面积> 2500 µm2每厘米的肌间神经节数量。每个参数的得分范围为-1至2，评分系统的总分范围为-2至4。以≥2（AUC，0.98；95％CI：0.96-1.00）为界值，评分系统的敏感性为 96%（95% CI：0.82-1.00），特异性为 99%（95% CI：0.95-1.00）。我们根据肌间神经节细胞和神经节数量的量化设计了一种新的病理标准。此外，该标准显示出较高的诊断准确性，并可在临床实践中对 IHG 进行明确诊断。