Department of Surgery, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Department of Pathology, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Pediatr Surg Int. 2021 Nov;37(11):1563-1568. doi: 10.1007/s00383-021-04981-4. Epub 2021 Aug 16.
Skip segment Hirschsprung's disease (SS-HSCR) is defined as the occurrence of a segment of ganglionated intestine surrounded proximally and distally by aganglionosis. The presence of the skip intestinal segment often leads to clinical misdiagnosis, missed diagnosis or inadequate resection of the lesions. The purpose was to describe two new cases of SS-HSCR with the aim of proposing questions regarding the diagnosis and treatment of this rare disease.
We reported two cases of infants with SS-HSCR that were admitted to our institution within the last 3 years.
One patient had a skip segment of ganglionated intestine in the ascending colon. In the other patient, there were no ganglionic cells in the rectum and appendix, but ganglionic cells were visible in the proximal ascending colon. The entire colons in the both cases were finally resected, and a pull-through operation was performed.
Multipoint biopsy should be performed when the biopsy results are inconsistent with clinical manifestations. Intraoperative laparoscopic identification of the transition zone may be necessary when TCA is suspected. Multisegment biopsy is needed to as a preventative measure for SS-HSCR if TCA is indicated during surgery. Further study is required to determine the optimal length and method of retention of segments.
跳跃段先天性巨结肠（SS-HSCR）的定义为一段具有肠神经节的肠段，其近端和远端均被无神经节细胞肠段环绕。跳跃肠段的存在常导致临床误诊、漏诊或病变切除不充分。本研究旨在描述 2 例 SS-HSCR 新病例，旨在提出有关该罕见疾病诊断和治疗的问题。
我们报道了近 3 年来我院收治的 2 例 SS-HSCR 婴儿病例。
1 例患者升结肠存在一段具有肠神经节的肠段。另 1 例患者直肠和阑尾内未见神经节细胞，但近端升结肠可见神经节细胞。2 例患者最终均行全结肠切除和拖出术。
当活检结果与临床表现不一致时，应进行多点活检。当怀疑存在 TCA 时，可能需要术中腹腔镜识别过渡区。如果术中提示 TCA，则需要进行多节段活检以预防 SS-HSCR。需要进一步研究以确定 SS-HSCR 节段的最佳保留长度和方法。
