Yin Hong, Boyd Todd, Pacheco M Cristina, Schonfeld David, Bove Kevin E
Division of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Pediatr Dev Pathol. 2012 Mar-Apr;15(2):87-95. doi: 10.2350/11-01-0957-OA.1. Epub 2011 Oct 12.
Hirschsprung disease (HD) is reported in patients with Down syndrome with a frequency between 2% and 10%. The incidence of HD is 2% in our community-based registry that contains >700 patients with Down syndrome. We reviewed rectal biopsy findings in 32 of these patients who had suction rectal biopsy performed between 1980 and 2009 to investigate the cause of chronic constipation. We confirmed that 15 patients had diagnostic histologic and histochemical features of HD. More challenging were findings in 5 of 17 patients, in whom ganglia coexisted with equivocal acetylcholinesterase reaction patterns and/or hypertrophic submucosal nerves. In this retrospective study, we were able to resolve most of these discrepant findings by demonstrating normal calretinin-positive nerve twigs in the lamina propria and muscularis mucosae. The clinical significance of these unexpected findings in suction rectal biopsy specimens that did not satisfy strict criteria for a tissue diagnosis of HD is unknown. We speculate that a minority of these patients have transition zone morphology or an incomplete/atypical form of HD. Further investigations may help resolve discrepancies that arise when suction rectal biopsy is used to investigate chronic constipation in Down syndrome.
据报道，唐氏综合征患者中 Hirschsprung 病（HD）的发病率在 2%至 10%之间。在我们基于社区的登记系统中，HD 的发病率为 2%，该系统包含 700 多名唐氏综合征患者。我们回顾了 1980 年至 2009 年间接受直肠吸引活检的 32 例此类患者的直肠活检结果，以调查慢性便秘的原因。我们确认 15 例患者具有 HD 的诊断性组织学和组织化学特征。更具挑战性的是 17 例患者中有 5 例的活检结果，这些患者的神经节与乙酰胆碱酯酶反应模式不明确和/或黏膜下神经肥大同时存在。在这项回顾性研究中，我们通过证明固有层和黏膜肌层中钙视网膜蛋白阳性神经小枝正常，解决了大多数这些不一致的发现。这些在直肠吸引活检标本中出现的不符合 HD 组织诊断严格标准的意外发现的临床意义尚不清楚。我们推测这些患者中少数具有过渡区形态或 HD 的不完全/非典型形式。进一步的研究可能有助于解决在使用直肠吸引活检调查唐氏综合征患者慢性便秘时出现的差异。
