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Congenital Segmental Dilatation of the Intestine

  • Yoshiaki TakahashiEmail author
  • Yoshinori Hamada
  • Tomoaki Taguchi
Living reference work entry
  • 202 Downloads

Abstract

Segmental dilatation of the intestine (SD) is a rare lesion defined as limited bowel dilatation with a three- to fourfold increase in size with an abrupt transition between the normal and dilated bowel and no intrinsic or extrinsic barrier distal to the dilatation. It was first described by Swenson and Rathauser in 1959, and over 100 cases have been reported since then. Several theories were proposed to explain this malformation; however, its cause remains unknown.

Most pediatric cases are discovered in neonatal periods, so the SD cases in neonates were frequently called congenital segmental dilatation (CSD). Neonates with CSD usually present with features of intestinal obstruction within days of birth. Older children present with anemia, hypoproteinemia, malabsorption, and gastrointestinal bleeding. Preoperative diagnosis is sometimes difficult because of the clinical polymorphism and the lack of specificity of radiological investigations. Patients with an unexplained obstructive intestinal pattern are occasionally found at surgical exploration. The usual finding on laparotomy is localized dilatation of an isolated, well-defined segment of bowel with apparently normal bowel proximal and distal to this segment.

The definitive treatment is resection of the dilated segment and anastomosis of the normal segments of intestine. Most patients have an uneventful course after surgical resection, and the prognosis is excellent. In most cases, histology of the resected segment is usually normal. However, some of the cases showed hypertrophied or very thin muscle layer in the involved segment in histopathological evaluation. The dislocation of the myenteric plexus and the ectopic pancreatic or gastric tissues are reported in dilated intestinal segment.

Keywords

Segmental dilatation Intestine Colon Neonate Criteria Intestinal obstruction Surgical resection Histopathology Allied disorders of Hirschsprung’s disease 

Introduction

Segmental dilatation of the intestine (SD) is a rare lesion defined as limited bowel dilatation with a three to fourfold increase in size with an abrupt transition between the normal and dilated bowel and no intrinsic or extrinsic barrier distal to the dilatation. It was first described in 1959 by Swenson and Rathauser (Swenson and Rathauser 1959) as “a new entity,” which is distinct from Hirschsprung’s disease in terms of the pathological findings of normal ganglion cells. Since then, over 100 cases were reported in the world literature, and more than 50% of the SD were neonatal discoveries (Ben Brahim et al. 2006). So it is assumed that these conditions represent congenital malformation, and the SD cases in neonate are frequently called congenital segmental dilatation (CSD). This condition is complicated by the obstruction of the intestines or chronic constipation from birth. From 2000 to 2016, 53 cases of SD in neonates were reported (Rantan et al. 2001; Hosie et al. 2001; Cheng et al. 2001; Chadha et al. 2001; Ojha et al. 2004; Mathur et al. 2004; Manikoth et al. 2004; Basaran et al. 2005; Waters et al. 2007; Morikawa et al. 2009; Thambidorai et al. 2009; Saha et al. 2009; Okada et al. 2010; Harjai et al. 2010; Park et al. 2010; Mahadevaiah et al. 2011; Ragavan et al. 2012; Mirza and Bux 2012; Rathod et al. 2012; Paradiso et al. 2013; Sakaguchi et al. 2015; Soyer et al. 2015; Rai et al. 2016; Sakaguchi et al. 2016; Kaiser et al. 2016). Despite the large number of reports, the etiology of the disease remains elusive. Although the current study attempts to evaluate the roles of interstitial cells of Cajal, the enteric nervous system, and the smooth muscle in segmental dilatation of the intestine, the etiology has not been clarified. The first and most recent retrospective cohort study on allied disorder of Hirschsprung’s disease (ADHD) was performed in Japan. SD was classified as an ADHD and 28 SD cases were collected (Sakaguchi et al. 2015; Taguchi et al. 2017).

Etiology

The etiology of SD remains unknown. Some of the hypotheses that have been proposed:
  1. (a)

    Abnormal tortuous vessels (Rossi and Giacomoni 1973; Komi and Kohyama 1974)

     
  2. (b)

    Vascular insufficiency during intussusceptions (Ueda and Okamoto 1972)

     
  3. (c)

    Disturbance during splitting of the notochord from the endoderm (Heller et al. 1989)

     
  4. (d)

    Volvulus and kinking due to a long mesentery during the embryologic period (Balik et al. 1993)

     
  5. (e)

    Interruption of the continuity of the nerve fibers and the nerve plexus in islands of ectopic tissue (Marsden and Glichrist 1963; Rovira et al. 1989)

     
  6. (f)

    Entrapment by the omphalocele sac (Irving and Lister 1977)

     
  7. (g)

    Strangulation of the intestine in the umbilical ring during the early stage of development (Irving and Lister 1977)

     

The Clinical Features and Diagnosis

The common morphological feature of SD is the presence of a single, well-defined segment of dilated intestine with a more or less abrupt transition to normal bowel both proximally and distally, with no evidence of intrinsic obstruction or deficient innervation. Most cases of SD were discovered in neonates who presented with symptoms of intestinal obstruction in which the clinical picture was hard to differentiate from more common causes of occlusion, such as intestinal atresia, Hirschsprung’s disease, meconium ileus, intestinal duplication, and midgut volvulus. From the reviews of 53 neonatal cases (Rantan et al. 2001; Hosie et al. 2001; Cheng et al. 2001; Chadha et al. 2001; Ojha et al. 2004; Mathur et al. 2004; Manikoth et al. 2004; Basaran et al. 2005; Waters et al. 2007; Morikawa et al. 2009; Thambidorai et al. 2009; Saha et al. 2009; Okada et al. 2010; Harjai et al. 2010; Park et al. 2010; Mahadevaiah et al. 2011; Ragavan et al. 2012; Mirza and Bux 2012; Rathod et al. 2012; Paradiso et al. 2013; Sakaguchi et al. 2015; Soyer et al. 2015; Rai et al. 2016; Sakaguchi et al. 2016; Kaiser et al. 2016), the common symptoms were abdominal distension and vomiting. Rarely, the patient may present with peritonitis due to peroration of the dilated segment (Thambidorai et al. 2009; Kuint et al. 1993). And the commonly dilated segments were the ileum (n = 31; 58%) and colon (n = 14; 26%). Concurrent malformation were seen in 26 cases (49%) such as intestinal malformation (n = 12), omphalocele (n = 7), congenital heart disease (n = 6), and cleft lip and palate (n = 4). Among them, multiple malformations were seen in five cases. Four cases had chromosomal abnormalities: trisomy 21 (n = 3) and 46 XY 15p + (n = 1).

Because the symptom is not specific and the definitive diagnosis is difficult, SD is usually diagnosed incidentally during surgery. However, the anomaly can also be suspected or diagnosed preoperatively on the basis of radiologic findings (Basaran et al. 2005; Waters et al. 2007). The classic feature of SD on plain radiographs is the marked segmental dilatation of the bowel loop, with or without an air-fluid level (Fig. 1). Contrast enema studies are often useful for confirming segmental dilatation of the bowel loop (Waters et al. 2007). In segmental dilatation of the colon, the contrast enema findings are very similar to those of Hirschsprung’s disease, but the two conditions can be differentiated by anorectal manometry. Additionally, histochemical studies demonstrate that there is no proliferation of the cholinergic nerve fibers of the rectal mucosa.
Fig. 1

X-ray showed a dilated bowel ( arrow ) in the right side of the abdomen

Criteria

The criteria for diagnosis of this entity, as proposed by Swenson and Rathauser, are as follows (Swenson and Rathauser 1959):
  1. (a)

    Limited bowel dilatation with a three to fourfold increase in size

     
  2. (b)

    An abrupt transition between the dilated and normal bowel

     
  3. (c)

    No intrinsic or extrinsic barrier distal to the dilatation

     
  4. (d)

    A clinical picture of intestinal occlusion or subocclusion

     
  5. (e)

    A normality of the neuronal plexus

     
  6. (f)

    Complete recovery after resection of the affected segment

     
The diagnosis of definitive SD occurs when all criteria are met, and the possible SD is diagnosed solely based on anatomical features (a–c) without occlusive findings (Fig. 2) and surgery of histological examination.
Fig. 2

( a ) Surgical finding. Locally dilated ileum with an abrupt transition between the dilated and normal bowel. No intrinsic or extrinsic barrier distal to dilatation. ( b ) Resected specimen

Pathology

The histopathological findings are most important diagnostic criteria. The presence of ganglion cells that are normal in number and morphology is one of the criteria for the differential diagnosis. Microscopy can reveal some anomalies, essentially a hypertrophic muscular layer and a heterotopic mucosa that can include esophageal, gastric, or pancreatic tissue. Hypertrophy of the circular and longitudinal layers of the muscularis propria in the dilated segment is evident in older infants/children and is probably an acquired functional adaptation that occurs secondarily to chronic fecal distention (Helikson et al. 1982; Brawner and Shafer 1973).

From the review of 53 neonatal cases (Rantan et al. 2001; Hosie et al. 2001; Cheng et al. 2001; Chadha et al. 2001; Ojha et al. 2004; Mathur et al. 2004; Manikoth et al. 2004; Basaran et al. 2005; Waters et al. 2007; Morikawa et al. 2009; Thambidorai et al. 2009; Saha et al. 2009; Okada et al. 2010; Harjai et al. 2010; Park et al. 2010; Mahadevaiah et al. 2011; Ragavan et al. 2012; Mirza and Bux 2012; Rathod et al. 2012; Paradiso et al. 2013; Sakaguchi et al. 2015; Soyer et al. 2015; Rai et al. 2016; Sakaguchi et al. 2016; Kaiser et al. 2016), 8 with hypertrophic muscular layer were reported (Ben Brahim et al. 2006; Hosie et al. 2001; Basaran et al. 2005; Saha et al. 2009; Sakaguchi et al. 2015; Soyer et al. 2015), but 9 with hypotrophic or atrophic muscular layer were collected (Ben Brahim et al. 2006; Rantan et al. 2001; Chadha et al. 2001; Ojha et al. 2004; Thambidorai et al. 2009; Okada et al. 2010; Park et al. 2010; Sakaguchi et al. 2015). Ectopic pancreatic or gastric tissues were found in two and three cases, respectively (Ben Brahim et al. 2006; Harjai et al. 2010; Paradiso et al. 2013; Sakaguchi et al. 2015). Some case reports of SD detected decreasing c-kit- positive cells in the dilated segment (Okada et al. 2010; Sakaguchi et al. 2016; Katsura et al. 2011). In some cases, other immunohistological investigations, such as CD-56, S-100, and MAP5, assisted in the diagnosis of SD (Cheng et al. 2001). Furthermore, a recent study reported the dislocation of the myenteric plexus within the circular muscle layer (Mahadevaiah et al. 2011) (Fig. 3). Precise histological and immunohistological investigations in future cases of SD might provide more detailed information about its etiology.
Fig. 3

Myenteric plexus shifts to the circular muscle layer ( arrow ) at the dilatated lesion, but not at the non-dilatated lesion. CM circular muscle layer, LM longitudinal muscle layer

Treatment

The treatment of SD depends on the clinical condition of the patient, the presentation, the surgeon’s experience in dealing with such malformations, and the association with other malformations. The definitive surgery is resection of the involved segment and end-to-end anastomosis with/without proximal colostomy (Balik et al. 1993; Al-Salem and Grant 1990; Sarin and Singh 1995). In the case of patients who are critically ill (such as patients with perforation or chromosomal abnormalities), an ileostomy can be fashioned without excision of the segmental dilatation (Mirza and Bux 2012). In the case of associated anorectal malformations, stoma formation is always recommended for anorectoplasty in the second stage. A covering ileostomy was also fashioned due to the presence of multiple colonic anastomoses and rectal atresia (Mirza and Bux 2012).

Some reports recommend the use of laparoscopic procedure in the surgical treatment of SD. Laparoscopy was found to be a reliable diagnostic tool and is a minimally invasive procedure that provides safe and superior cosmetic results (Porreca and Capobianco 2002).

Prognosis

Most patients who underwent surgery for SD showed an uncomplicated postoperative course. The survival rate is excellent unless other serious complications or anomalies are present. In the most recent retrospective cohort study, one patient who underwent ileocecal resection for cecal segmental dilatation at 9 years of age died at 12 years of age from catheter-related sepsis and liver dysfunction. Excluding the case, the survival rate of SD was 100% (Sakaguchi et al. 2015).

Conclusion and Future Directions

Segmental dilatation of the intestine is a rare malformation with an unknown etiology and a misleading clinical presentation. From the review of 53 neonatal cases, most of the clinical features have been revealed, but the etiology of SD remains unclear. In some cases, immunohistological investigations are useful for diagnosis. Precise histological and immunohistological investigations in future cases of SD might provide more detailed information about its etiology. The treatment is simple and the postoperative course is frequently uneventful.

Cross-References

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Copyright information

© Springer-Verlag GmbH Germany 2017

Authors and Affiliations

  • Yoshiaki Takahashi
    • 1
    Email author
  • Yoshinori Hamada
    • 2
  • Tomoaki Taguchi
    • 1
  1. 1.Department of Pediatric Surgery, Graduate School of Medical SciencesKyushu UniversityFukuokaJapan
  2. 2.Department of SurgeryKansai Medical UniversityOsakaJapan

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