Departments of Laboratory Medicine and Pathology.
Pediatrics, Seattle Children's and University of Washington, Seattle, WA.
Am J Surg Pathol. 2021 Aug 1;45(8):1047-1060. doi: 10.1097/PAS.0000000000001670.
Congenital myenteric hypoganglionosis is a rare developmental disorder characterized clinically by severe and persistent neonatal intestinal pseudoobstruction. The diagnosis is established by the prevalence of small myenteric ganglia composed of closely spaced ganglion cells with sparse surrounding neuropil. In practice, the diagnosis entails familiarity with the normal appearance of myenteric ganglia in young infants and the ability to confidently recognize significant deviations in ganglion size and morphology. We review clinical, histologic, and immunohistochemical findings from 12 patients with congenital myenteric hypoganglionosis in comparison with similar data from age-matched controls and clearly delineate the diagnostic features of the condition. Practical guidelines are provided to assist surgical pathologists, who are likely to encounter this condition only infrequently. The diagnosis typically requires full-thickness intestinal biopsy as the abnormality is confined to the myenteric plexus in many patients. Immunohistochemistry for Hu C/D may be used to confirm hypoganglionosis. Reduced staining for calretinin and NeuN implicates a selective deficiency of intrinsic primary afferent neurons in this disease.
先天性肠肌神经节发育不良是一种罕见的发育障碍性疾病，临床上以严重且持续的新生儿假性肠梗阻为特征。诊断依据是存在由紧密排列的神经节细胞和稀疏的周围神经胶质组成的小肌间神经节。实际上，诊断需要熟悉婴幼儿肌间神经节的正常表现，并能够自信地识别神经节大小和形态的显著偏差。我们回顾了 12 例先天性肠肌神经节发育不良患者的临床、组织学和免疫组织化学发现，并与年龄匹配的对照组进行了比较，明确了该疾病的诊断特征。我们提供了实用的指南，以帮助外科病理学家，他们可能只是偶尔遇到这种情况。由于该异常在许多患者中仅限于肌间神经丛，因此通常需要进行全层肠活检才能做出诊断。Hu C/D 的免疫组织化学染色可用于确认神经节发育不良。钙视网膜蛋白和 NeuN 染色减少提示在这种疾病中存在固有初级传入神经元的选择性缺乏。
