Schofield D E, Yunis E J
Department of Pathology, Children's Hospital of Pittsburgh, Pennsylvania 15213.
J Pediatr Gastroenterol Nutr. 1991 Feb;12(2):182-9. doi: 10.1097/00005176-199102000-00008.
Four hundred ninety-eight acetylcholinesterase-stained suction rectal biopsies from 456 children were examined to assess the occurrence of "isolated" or "primary" intestinal neuronal dysplasia at Children's Hospital of Pittsburgh. Cases of proven Hirschsprung's disease were excluded. In 38 biopsies from 38 patients, we found a mild to moderate increase in mucosal acetylcholinesterase staining and abundant submucosal ganglion cells (large, irregular ganglia or at least five ganglia per HPF). This group was clinically heterogeneous with a frequent history of prematurity and small left colon/meconium plug syndrome, protein/formula intolerance, or obstructive anatomic gastrointestinal abnormalities. We feel that isolated "intestinal neuronal dysplasia," as diagnosed by suction rectal biopsy and the above criteria, is a descriptive biopsy appearance. Rather than characterizing a unique disease entity, it is encountered in a variety of clinical situations. Based on our observations and review of the literature, we therefore conclude that "intestinal neuronal dysplasia" not associated with Hirschsprung's disease, neurofibromatosis, or multiple endocrine neoplasia syndrome has yet to be well defined in clinical and histopathologic terms. The histologic diagnosis, at this time, should be reserved for those rare, florid cases of parasympathetic hyperganglionosis that are documented by adequate tissue sampling.
对匹兹堡儿童医院456名儿童的498份乙酰胆碱酯酶染色的直肠吸引活检标本进行检查，以评估“孤立性”或“原发性”肠道神经元发育异常的发生率。已确诊的先天性巨结肠病例被排除在外。在38例患者的38份活检标本中，我们发现黏膜乙酰胆碱酯酶染色轻度至中度增加，黏膜下神经节细胞丰富（大的、不规则的神经节或每高倍视野至少有五个神经节）。该组患者临床情况各异，常有早产、小左结肠/胎粪阻塞综合征、蛋白质/配方奶不耐受或阻塞性解剖学胃肠道异常病史。我们认为，通过直肠吸引活检及上述标准诊断的孤立性“肠道神经元发育异常”是一种描述性的活检表现。它并非一种独特的疾病实体，而是在多种临床情况下都会出现。基于我们的观察和文献回顾，因此我们得出结论，与先天性巨结肠、神经纤维瘤病或多发性内分泌肿瘤综合征无关的“肠道神经元发育异常”在临床和组织病理学方面尚未得到明确界定。目前，组织学诊断应仅用于那些通过充分组织采样记录的罕见、典型的副交感神经节细胞增生病例。
