CASE REPORT A rare case of multiple skip segment Hirschsprung’s disease in the ileum and colon Elif Emel Erten • Yusuf Hakan C¸ avus¸og ˘lu • Nilu ¨fer Arda • Ays¸e Karaman • C¸ ag ˘atay Evrim Afs¸arlar • I ˙ brahim Karaman • I ˙ smet Faruk O ¨ zgu ¨ner Accepted: 22 October 2013 / Published online: 1 November 2013 Ó Springer-Verlag Berlin Heidelberg 2013 Abstract As a rare form of Hirschsprung’s disease, skip segment Hirschsprung’s disease (SSHD) involves a ‘‘skip area’’in normally ganglionated intestine, surrounded by aganglionosis. We report a case of multiple SSHD in the ileum and colon with total colonic aganglionosis. To our knowledge, this is the 27th case of SSHD, the third paper on multiple-segment SSHD, and the second patient with SSHD in the ileum to be reported in the English literature. Keywords Hirschsprung disease Infant Newborn Diagnosis Differential Colon Ileum Introduction Hirschsprung’s disease (HD) is characterized by an agan- glionic segment of the intestine beginning at the anus and proximally extending till a distance that varies from case to case.There are two extremely rare forms that are distinct from classic HD. Zonalaganglionosis is a phenomenon involving a zone of aganglionosis occurring within a nor- mally innervated intestine. Skip segment Hirschsprung’s disease (SSHD) involves a ‘skip area’ in a normally gan- glionated intestine, proximally and distally surrounded by aganglionosis [1]. Here we report a case of multiple SSHD in the ileum and colon with total colonic aganglionosis (TCA) diag- nosed by pathological examination of the specimen fol- lowing a modified Duhamel operation. Case A 3-day-old male born at full term weighing 3.250 kg, was admitted to our hospital with complaints of bilious vom- iting and abdominal distention. He passed meconium by rectalirrigation. Plain abdominal radiograph revealed air- fluid levels and no gas in the distal colon. A barium enema study did not reveal anything significant (Fig. 1).HD was clinically suspected, and a full-thickness rectal biopsy was performed from 2nd cm under general anesthesia. Patho- logical examination revealed no ganglion cells in the myentericand submucosal plexuses. The patientwas managed with rectal irrigations at home.At the age of 7 months, he underwent transanal endorectal pull-through. Because barium enema indicated no transitional zone, the sigmoid colon was exposed from a subumbilical mini- smiling incision. No transitionzone was identified. Becauseintra-operative biopsy of the sigmoidcolon revealed an absence of ganglion cells, laparotomy was performed using a right transverse supraumbilical incision A transitional zone was observed at the terminal ileum 7 cm proximal to the cecum. Appendectomy, full-thicknes biopsies ofthe transverse colon, narrow ileum, and the beginning of the dilated ileum were performed to obtain frozen sections. Because aganglionosis was identified in the transverse colon, appendix, and distal ileum and gan- glion cellsin the dilated ileum, a loop ileostomy was performed. The surgery was terminated after TCA was diagnosed. E. E. Erten Y. H. C¸ avus¸og ˘lu (&) A. Karaman C¸ . E. Afs¸arlar I ˙ . Karaman I ˙ . F. O ¨ zgu ¨ner Department of Pediatric Surgery, Dr. Sami Ulus Maternity and Children’s Hospital, Altındag ˘, Ankara,Turkey e-mail: hakancavusoglu@hotmail.com N. Arda Department of Pediatric Pathology, Dr. Sami Ulus Maternity and Children’s Hospital, Altındag ˘, Ankara,Turkey 123 Pediatr Surg Int (2014) 30:349–351 DOI 10.1007/s00383-013-3428-z