Download PDF
CC BY-NC-ND 4.0 · AJP Rep 2019; 09(03): e218-e225
DOI: 10.1055/s-0039-1693164
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Congenital Segmental Intestinal Dilatation: A 25-Year Review with Long-Term Follow-up at the Medical University of Innsbruck, Austria

Consolato Sergi 
1   Department of Orthopedics, Tianyou Hospital, Wuhan University of Science and Technology, Wuhan, Hubei, P.R. China
2   Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada
3   Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
,
Thomas Hager
4   Institute of Pathology, University Hospital of Essen, University Duisburg-Essen, Essen, Germany
5   Institute of Pathology, Medical University of Innsbruck, Innsbruck, Austria
,
Josef Hager
6   Department of Pediatric Surgery, Medical University of Innsbruck, Innsbruck, Austria
› Author Affiliations
Further Information

Publication History

29 December 2017

26 April 2019

Publication Date:
11 July 2019 (online)

   Permissions and Reprints

Abstract

Background and Aim Congenital segmental intestinal dilatation (CSID) is a neonatal condition with unclear etiology and pathogenesis. Typically, the newborn with CSID presents with a limited (circumscribed) bowel dilatation, an abrupt transition between normal and dilated segments, neither intrinsic nor extrinsic perilesional obstruction, and no aganglionosis or neuronal intestinal dysplasia. We aimed to review this disease and the long-term follow-up at the Children's Hospital of the Medical University of Innsbruck, Tyrol, Austria.

Study Design Retrospective 25-year review of medical charts, electronic files, and histopathology of neonates with CSID.

Results We identified four infants (three girls and one boy) with CSID. The affected areas included duodenum, ileum, ascending colon, and sigmoid colon. Noteworthy, all patients presented with a cardiovascular defect, of which two required multiple cardiac surgical interventions. Three out of the four patients recovered completely. To date, the three infants are alive.

Conclusion This is the first report of patients with CSID and cardiovascular defects. The clinical and surgical intervention for CSID also requires a thorough cardiologic evaluation in these patients. CSID remains an enigmatic entity pointing to the need for joint forces in identifying common loci for genetic investigations.

Keywords

dilatation - intestine - obstruction - aganglionosis - Hirschsprung's disease - heart defect
 

  • References

  • 1 Ben Brahim M, Belghith M, Mekki M. , et al. Segmental dilatation of the intestine. J Pediatr Surg 2006; 41 (06) 1130-1133
    CrossrefPubMedGoogle Scholar
  • 2 Takawira C, D'Agostini S, Shenouda S, Persad R, Sergi C. Laboratory procedures update on Hirschsprung disease. J Pediatr Gastroenterol Nutr 2015; 60 (05) 598-605
    CrossrefPubMedGoogle Scholar
  • 3 Burtelow MA, Longacre TA. Utility of microtubule associated protein-2 (MAP-2) immunohistochemistry for identification of ganglion cells in paraffin-embedded rectal suction biopsies. Am J Surg Pathol 2009; 33 (07) 1025-1030
    CrossrefPubMedGoogle Scholar
  • 4 Chisholm KM, Longacre TA. Utility of peripherin versus MAP-2 and calretinin in the evaluation of Hirschsprung disease. Appl Immunohistochem Mol Morphol 2016; 24 (09) 627-632
    PubMedGoogle Scholar
  • 5 Yang WI, Oh JT. Calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of Hirschsprung's disease. J Pediatr Surg 2013; 48 (10) 2112-2117
    CrossrefPubMedGoogle Scholar
  • 6 Oyachi N, Suzuki T, Emura T. , et al. Segmental absence of intestinal musculature with metachronous bowel perforations in an infant. J Pediatr Surg Case Rep 2018; 30: 1-3
    PubMedGoogle Scholar
  • 7 Swenson O, Rathauser F. Segmental dilatation of the colon; a new entity. Am J Surg 1959; 97 (06) 734-738
    CrossrefPubMedGoogle Scholar
  • 8 Porreca A, Capobianco A, Terracciano C, D'Onofrio V. Segmental dilatation of the ileum presenting with acute intestinal bleeding. J Pediatr Surg 2002; 37 (10) 1506-1508
    CrossrefPubMedGoogle Scholar
  • 9 Rossi R, Giacomoni MA. Segmental dilation of the jejunum. J Pediatr Surg 1973; 8 (02) 335-336
    CrossrefPubMedGoogle Scholar
  • 10 Sjolin S, Thoren L. Segmental dilatation of the small intestine. Arch Dis Child 1962; 37: 422-424
    CrossrefPubMedGoogle Scholar
  • 11 Ueda T, Okamoto E. Segmental dilatation of the ileum. J Pediatr Surg 1972; 7 (03) 292-293
    CrossrefPubMedGoogle Scholar
  • 12 Irving IM, Lister J. Segmental dilatation of the ileum. J Pediatr Surg 1977; 12 (01) 103-112
    CrossrefPubMedGoogle Scholar
  • 13 Rovira J, Morales L, Parri FJ, Juliá V, Claret I. Segmental dilatation of the duodenum. J Pediatr Surg 1989; 24 (11) 1155-1157
    CrossrefPubMedGoogle Scholar
  • 14 Elemen L, Inanc D, Oz F, Erdogan E. Segmental dilatation of the ileum accompanying hypoproteinemia. J Pediatr Surg 2008; 43 (07) e15-e18
    PubMedGoogle Scholar
  • 15 Johnson L, Simone K, Cullen J, Talley A, Cohen EB. Radiographic features of congenital segmental dilation of the intestine in a German shepherd dog. Vet Radiol Ultrasound 2017 . DOI: https://doi.org/10.1111/vru.12581
    PubMedGoogle Scholar
  • 16 Taguchi T, Ieiri S, Miyoshi K. , et al. The incidence and outcome of allied disorders of Hirschsprung's disease in Japan: results from a nationwide survey. Asian J Surg 2017; 40 (01) 29-34
    CrossrefPubMedGoogle Scholar
  • 17 Kaiser M, Castellani C, Singer G, Marterer R, Ratschek M, Till H. Huge congenital segmental dilatation of the sigmoid colon in a neonate: a “rarity to meet” and a “challenge to treat”. Case Rep Pediatr 2016; 2016: 9685307
    PubMedGoogle Scholar
  • 18 Rai BK, Mirza B, Hashim I, Saleem M. Varied presentation of congenital segmental dilatation of the intestine in neonates: report of three cases. J Neonatal Surg 2016; 5 (04) 55
    CrossrefPubMedGoogle Scholar
  • 19 Paradiso FV, Coletta R, Olivieri C. , et al. Antenatal ultrasonographic features associated with segmental small bowel dilatation: an unusual neonatal condition mimicking congenital small bowel obstruction. Pediatr Neonatol 2013; 54 (05) 339-343
    CrossrefPubMedGoogle Scholar
  • 20 Sam CJ. Segmental ileal dilatation in a child. Trop Gastroenterol 2011; 32 (03) 221-223
    PubMedGoogle Scholar
  • 21 DeBenedet AT, Saini SD, Takami M, Fisher LR. Do clinical characteristics predict the presence of small bowel angioectasias on capsule endoscopy?. Dig Dis Sci 2011; 56 (06) 1776-1781
    CrossrefPubMedGoogle Scholar
  • 22 Harjai MM, Katiyar A, Negi V, Yadav D, Sharma M. Congenital segmental dilatation of jejunoileal region in a newborn: unusual clinical and radiologic presentation. J Indian Assoc Pediatr Surg 2010; 15 (03) 96-97
    CrossrefPubMedGoogle Scholar
  • 23 Inoue M, Uchida K, Otake K, Koike Y, Miki C, Kusunoki M. Congenital segmental dilatation of the duodenum: report of a case. Pediatr Int 2010; 52 (04) e184-e186
    CrossrefPubMedGoogle Scholar
  • 24 Okada T, Sasaki F, Honda S. , et al. Disorders of interstitial cells of Cajal in a neonate with segmental dilatation of the intestine. J Pediatr Surg 2010; 45 (06) e11-e14
    PubMedGoogle Scholar
  • 25 Shah AD, Kovanlikaya A, Beneck D, Spigland N, Brill PW. Segmental dilatation of the ileum in a healthy adolescent. Pediatr Radiol 2009; 39 (12) 1350-1353
    CrossrefPubMedGoogle Scholar
  • 26 Saha S, Konar H, Chatterjee P. , et al. Segmental ileal obstruction in neonates--a rare entity. J Pediatr Surg 2009; 44 (09) 1827-1830
    CrossrefPubMedGoogle Scholar
  • 27 Brown BR, Hennessey I, Lansdale N, Humphrey G. Pancreatic tissue in congenital segmental dilatation of intestine: case presentation and recommendation for treatment. J Pediatr Surg 2008; 43 (11) e9-e11
    PubMedGoogle Scholar
  • 28 Daher P, Ghanimeh J, Riachy E, Zeidan S, Eid B. Congenital segmental dilatation of the small bowel (CSD). Eur J Pediatr Surg 2007; 17 (04) 289-291
    Article in Thieme ConnectPubMedGoogle Scholar
  • 29 Kella N, Rathi PK. Segmental defect of intestinal musculature: a rare cause of intestinal obstruction in children. J Coll Physicians Surg Pak 2006; 16 (08) 551-552
    PubMedGoogle Scholar
  • 30 Kothari P, , Gowrishankar, Rastogi A, Dipali R, Kulkarni B. ; Gowrishankar. Congenital segmental dilatation of colon with colonic atresia. Indian J Gastroenterol 2005; 24 (03) 123-124
    PubMedGoogle Scholar
  • 31 Katsura S, Kudo T, Enoki T, Taguchi T, Hamano K. Congenital segmental dilatation of the duodenum: report of a case. Surg Today 2011; 41 (03) 406-408
    CrossrefPubMedGoogle Scholar
  • 32 Mathur P, Mogra N, Surana SS, Bordia S. Congenital segmental dilatation of the colon with anorectal malformation. J Pediatr Surg 2004; 39 (08) e18-e20
    PubMedGoogle Scholar
  • 33 Doody D, Nguyen LT. Congenital atresia of the colon combined with segmental dilatation of the ileum: a case report. J Pediatr Surg 1987; 22 (09) 804-805
    CrossrefPubMedGoogle Scholar
  • 34 Ratcliffe J, Tait J, Lisle D, Leditschke JF, Bell J. Segmental dilatation of the small bowel: report of three cases and literature review. Radiology 1989; 171 (03) 827-830
    CrossrefPubMedGoogle Scholar
  • 35 Ratan SK, Kulsreshtha R, Ratan J. Cystic duplication of the cecum with segmental dilatation of the ileum: report of a case. Surg Today 2001; 31 (01) 72-75
    CrossrefPubMedGoogle Scholar
  • 36 Bell MJ, Ternberg JL, Bower RJ. Ileal dysgenesis in infants and children. J Pediatr Surg 1982; 17 (04) 395-399
    CrossrefPubMedGoogle Scholar
  • 37 Brown RL, Azizkhan RG. Gastrointestinal bleeding in infants and children: Meckel's diverticulum and intestinal duplication. Semin Pediatr Surg 1999; 8 (04) 202-209
    CrossrefPubMedGoogle Scholar
  • 38 Leinster SJ, Hughes LE. Segmental mega-ileum presenting as anaemia. Br J Surg 1981; 68 (06) 417-419
    CrossrefPubMedGoogle Scholar
  • 39 Morewood DJ, Cunningham ME. Case report: segmental dilatation of the ileum presenting with anaemia. Clin Radiol 1985; 36 (03) 267-268
    CrossrefPubMedGoogle Scholar
  • 40 Cheng W, Lui VC, Chen QM, Tam PK. Enteric nervous system, interstitial cells of cajal, and smooth muscle vacuolization in segmental dilatation of jejunum. J Pediatr Surg 2001; 36 (06) 930-935
    CrossrefPubMedGoogle Scholar
  • 41 Huang SF, Vacanti J, Kozakewich H. Segmental defect of the intestinal musculature of a newborn: evidence of acquired pathogenesis. J Pediatr Surg 1996; 31 (05) 721-725
    CrossrefPubMedGoogle Scholar
  • 42 Kuint J, Avigad I, Husar M, Linder N, Reichman B. Segmental dilatation of the ileum: an uncommon cause of neonatal intestinal obstruction. J Pediatr Surg 1993; 28 (12) 1637-1639
    CrossrefPubMedGoogle Scholar
  • 43 Machens A, Thonke F, Kluth D, Lambrecht W. An unusual case of segmental dilatation of the sigmoid colon. Eur J Pediatr Surg 1997; 7 (06) 369-370
    Article in Thieme ConnectPubMedGoogle Scholar
  • 44 Mboyo A, Aubert D, Massicot R, Destuynder O, Lassauge F, Lorin A. Antenatal finding of intestinal obstruction caused by isolated segmental jejunal dilatation: a case report. J Pediatr Surg 1996; 31 (10) 1454-1456
    CrossrefPubMedGoogle Scholar
  • 45 Takahashi Y, Hamada Y, Taguchi T. Congenital segmental dilatation of the intestine. In: Puri P. , eds. Pediatric Surgery. Berlin, Germany: Springer; 2017: 1-7
    Google Scholar
  • 46 Soyer T, Talim B, Tanyel FC. Segmental ileal dilatation with supernumerary intestinal muscle coat in a neonate. Surg Case Rep 2015; 1 (01) 16
    CrossrefPubMedGoogle Scholar
  • 47 Bălănescu RN, Bălănescu L, Moga AA, Drăgan GC, Djendov FB. Segmental aganglionosis in Hirschsprung's disease in newborns - a case report. Rom J Morphol Embryol 2015; 56 (02) 533-536
    PubMedGoogle Scholar
  • 48 Moore SW, Sidler D, Schubert PA. Segmental aganglionosis (zonal aganglionosis or “skip” lesions) in Hirschsprung's disease: a report of 2 unusual cases. Pediatr Surg Int 2013; 29 (05) 495-500
    CrossrefPubMedGoogle Scholar
  • 49 Martin LW, Buchino JJ, LeCoultre C, Ballard ET, Neblett WW. Hirschsprung's disease with skip area (segmental aganglionosis). J Pediatr Surg 1979; 14 (06) 686-687
    CrossrefPubMedGoogle Scholar
  • 50 Kobayashi T, Uchida N, Shiojima M. , et al. Segmental dilatation of the ileum covered almost entirely by gastric mucosa: report of a case. Surg Today 2007; 37 (12) 1102-1104
    CrossrefPubMedGoogle Scholar
  • 51 Arslan EE, Demir TA, Güney LH, Tepeoğlu M, Akıllı MS, Hiçsönmez A. A rare case of a gastric adenomyoma mimicking a gastric duplication cyst. Turk J Gastroenterol 2018; 29 (05) 613-615
    CrossrefPubMedGoogle Scholar
  • 52 Takeyama J, Sato T, Tanaka H, Nio M. Adenomyoma of the stomach mimicking infantile hypertrophic pyloric stenosis. J Pediatr Surg 2007; 42 (11) E11-E12
    PubMedGoogle Scholar
  • 53 Mathé JC, Khairallah S, Phat Vuoung NP, Boccon-Gibod L, Rey A, Costil J. [Segmental dilatation of the ileum in a neonate. Study of the myenteric plexus with a silver staining preparation (author's transl)]. Nouv Presse Med 1982; 11 (04) 265-266
    PubMedGoogle Scholar
  • 54 Heller K, Waag KL. [Formal genesis of segmental intestinal dilatation]. Langenbecks Arch Chir 1987; 372: 735-738
    CrossrefPubMedGoogle Scholar
  • 55 Hill MA. Embryology Paper - Teratogenicity in the setting of cardiac development and maldevelopment. Available at: https://embryology.med.unsw.edu.au/embryology/index.php/Paper_-_Teratogenecity_in_the_setting_of_cardiac_development_and_maldevelopment . Accessed March 1, 2019
    PubMedGoogle Scholar
  • 56 Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39 (12) 1890-1900
    CrossrefPubMedGoogle Scholar
  • 57 Calzolari E, Garani G, Cocchi G. , et al; IMER Working Group. Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy). Eur J Epidemiol 2003; 18 (08) 773-780
    PubMedGoogle Scholar
  • 58 Pradat P, Francannet C, Harris JA, Robert E. The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations. Pediatr Cardiol 2003; 24 (03) 195-221
    CrossrefPubMedGoogle Scholar
  • 59 Harris JA, Francannet C, Pradat P, Robert E. The epidemiology of cardiovascular defects, part 2: a study based on data from three large registries of congenital malformations. Pediatr Cardiol 2003; 24 (03) 222-235
    CrossrefPubMedGoogle Scholar
  • 60 Torres AM, Ziegler MM. Malrotation of the intestine. World J Surg 1993; 17 (03) 326-331
    CrossrefPubMedGoogle Scholar
  • 61 Kouwenberg M, Severijnen RS, Kapusta L. Congenital cardiovascular defects in children with intestinal malrotation. Pediatr Surg Int 2008; 24 (03) 257-263
    CrossrefPubMedGoogle Scholar
  • 62 Beddington RS, Robertson EJ. Axis development and early asymmetry in mammals. Cell 1999; 96 (02) 195-209
    CrossrefPubMedGoogle Scholar
  • 63 Essner JJ, Branford WW, Zhang J, Yost HJ. Mesendoderm and left-right brain, heart and gut development are differentially regulated by pitx2 isoforms. Development 2000; 127 (05) 1081-1093
    PubMedGoogle Scholar
  • 64 Campione M, Steinbeisser H, Schweickert A. , et al. The homeobox gene Pitx2: mediator of asymmetric left-right signaling in vertebrate heart and gut looping. Development 1999; 126 (06) 1225-1234
    PubMedGoogle Scholar
  • 65 Dagle JM, Sabel JL, Littig JL, Sutherland LB, Kolker SJ, Weeks DL. Pitx2c attenuation results in cardiac defects and abnormalities of intestinal orientation in developing Xenopus laevis . Dev Biol 2003; 262 (02) 268-281
    CrossrefPubMedGoogle Scholar
  • 66 Liu C, Liu W, Lu MF, Brown NA, Martin JF. Regulation of left-right asymmetry by thresholds of Pitx2c activity. Development 2001; 128 (11) 2039-2048
    PubMedGoogle Scholar
  • 67 Ryan AK, Blumberg B, Rodriguez-Esteban C. , et al. Pitx2 determines left-right asymmetry of internal organs in vertebrates. Nature 1998; 394 (6693): 545-551
    CrossrefPubMedGoogle Scholar
  • 68 Logan M, Pagán-Westphal SM, Smith DM, Paganessi L, Tabin CJ. The transcription factor Pitx2 mediates situs-specific morphogenesis in response to left-right asymmetric signals. Cell 1998; 94 (03) 307-317
    CrossrefPubMedGoogle Scholar
  • 69 Javors BR, Gold RP, Ghahremani GG. , et al. Idiopathic localized dilatation of the ileum in adults: findings on barium studies. AJR Am J Roentgenol 1995; 164 (01) 87-90
    CrossrefPubMedGoogle Scholar
  • 70 Metcalfe PD, Bascom A, Sergi C. Mimickers and tumours in the lower urinary tract: do we need more efficient vigilance?. Can Urol Assoc J 2013; 7 (5-6): E421-E425
    PubMedGoogle Scholar
  • 71 al-Salem AH, Grant C. Segmental dilatation of the colon. Report of a case and review of the literature. Dis Colon Rectum 1990; 33 (06) 515-518
    CrossrefPubMedGoogle Scholar
  • 72 Brawner J, Shafer AD. Segmental dilatation of the colon. J Pediatr Surg 1973; 8 (06) 957-958
    CrossrefPubMedGoogle Scholar
  • 73 Peña A, el Behery M. Megasigmoid: a source of pseudoincontinence in children with repaired anorectal malformations. J Pediatr Surg 1993; 28 (02) 199-203
    CrossrefPubMedGoogle Scholar
  • 74 Ravasse P, Petit T, Cau D, Delmas P. Volvulus of the sigmoid colon as a complication of segmental dilatation of the colon. Report of 2 cases. Eur J Pediatr Surg 1996; 6 (06) 375-377
    Article in Thieme ConnectPubMedGoogle Scholar
  • 75 Pelletier JS, LaBossiere J, Dicken B. , et al. Low-dose vasopressin improves cardiac function in newborn piglets with acute hypoxia-reoxygenation. Shock 2013; 40 (04) 320-326
    CrossrefPubMedGoogle Scholar