Williams M D, Burrington J D
Saint Joseph Hospital, Denver, CO.
J Pediatr Surg. 1993 Apr;28(4):637-9. doi: 10.1016/0022-3468(93)90679-f.
An infant with the rare association of colon atresia, total colonic Hirschsprung's disease, and tetralogy of Fallot is presented. While Hirschsprung's disease associated with atresia of the colon has been reported five times previously, this is the first case with associated congenital cardiac disease. As in previous reports, initial operations to relieve obstruction due to the colon atresia failed because of the unrecognized aganglionosis. This infant initially had an ileostomy performed as a newborn and then two failed attempts at closure of the ileostomy. In this case, as in four previously reported cases, histological examinations of resected colon from the initial operations were first reported as normal and only under the pressure of increasing clinical evidence was the pathology reviewed and the absence of ganglion cells appreciated. We stress the importance of suspecting the coexistence of Hirschsprung's disease and colon atresia when a functional obstruction is present after repair of the atresia.
本文报告了一名患有罕见的结肠闭锁、全结肠先天性巨结肠和法洛四联症的婴儿。虽然之前已有5次关于先天性巨结肠合并结肠闭锁的报道,但这是首例合并先天性心脏病的病例。与之前的报道一样,由于未识别出无神经节细胞症,最初为缓解结肠闭锁所致梗阻而进行的手术均告失败。该婴儿出生时最初接受了回肠造口术,随后两次尝试关闭回肠造口均失败。在本病例中,与之前报道的4例病例一样,最初手术切除结肠的组织学检查最初报告为正常,只是在临床证据不断增加的压力下,才对病理进行复查并发现无神经节细胞。我们强调,当结肠闭锁修复后出现功能性梗阻时,怀疑先天性巨结肠和结肠闭锁并存的重要性。