Figure - available via license: Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Content may be subject to copyright.
Source publication
Segmental dilatation of intestine (SD) is a congenital disease characterized by localized bowel dilation with normal ganglion cells. Clinically, small intestinal type of SD frequently occurs in the neonatal period with pseudo-obstruction. Though many theories have been proposed regarding the pathogenesis, the disease etiology is unclear. Interstiti...
Similar publications
A few patients have been shown to develop severe abdominal pain and gastrointestinal dysmotility during treatment with gonadotropin‑releasing hormone (GnRH) analogs. A rat model of enteric neuropathy has been developed by administration of the GnRH analog buserelin to rats. Loss of enteric neurons and ganglioneuritis throughout the gastrointestinal...
Citations
... Segmental dilatation of intestine (SDI) though uncommon is a well-known entity. More than 150 cases of SDI are reported in the literature [1][2][3][4][5][6][7][8][9][10][11]. The presentation and associations are well described; however, the etiology of this disease is largely unknown and association with JIA has never been reported. ...
... Recent reports suggest, interstitial cells of cajal (ICC) do play a major role in causation of SDI [7,8]. Okada et al. found ICCs around Auerbach's plexus of the dilated intestine to be highly deficient [7,8]. ...
... Recent reports suggest, interstitial cells of cajal (ICC) do play a major role in causation of SDI [7,8]. Okada et al. found ICCs around Auerbach's plexus of the dilated intestine to be highly deficient [7,8]. However, Soyer et al. (2015) found no mucosal abnormality, ganglia, plexuses, and ICC were normal in distribution in the dilated segment. ...
Background
Segmental dilatation of the intestine (SDI) though uncommon is a well-known entity and more than 150 cases of SDI are reported in the literature. The presentation and association of SDI are well described; however, the association of SDI with juvenile idiopathic arthritis (JIA) has not been reported earlier. We described a case of SDI with JIA, who presented with malnutrition and chronic abdominal distension.
Case presentation
A 5-year-old female child was getting treated for JIA and referred to us for evaluation of chronic abdominal distension. On laparotomy, a huge SDI was found approximately 40 cm from the ileocecal junction and resection of the dilated part with approximately 2–3 cm of healthy ileum on each side and anastomosis was performed. The child recovered well and the features of arthritis also resolute 6 weeks later. From histologic analysis, we have suggested role of localized myopathy in development of segmental dilatation. We have further emphasized the link between the SDI with development of arthritis.
Conclusion
Etiology of SDI is multifactorial with architectural malformation of the smooth muscle due to localized myopathy is the key. Focal stasis in SDI affecting permeability and increased exposure to macromolecules, and antigens may give rise to immune-mediated arthritis. Surgical management can reduce and cure the symptoms of such patients.
... It includes extrinsic compression of the fetal bowel by omphalomesenteric bands, intrauterine vascular accidents, congenital damage of the myenteric plexus, vacuolization of smooth muscle suggesting myopathy, and the presence of heterotopic mucosa causing disorganization of the neuromuscular peristaltic complex. [1,8] Other rare reasons for its occurrence include anatomic abnormalities in muscularis propria and deficiency/loss of ICC. [8] Quite interestingly, we found both of them in the index case, in the form of reversal of inner circular and outer longitudinal muscular layers and partial loss of ICC. ...
... [1,8] Other rare reasons for its occurrence include anatomic abnormalities in muscularis propria and deficiency/loss of ICC. [8] Quite interestingly, we found both of them in the index case, in the form of reversal of inner circular and outer longitudinal muscular layers and partial loss of ICC. In human embryo, the annular differentiation of layers of muscularis propria from homogeneous mesenchymal layer starts between 7 and 9 weeks of gestation. ...
... [7] Sakaguchi et al. reported a case of segmental gut dilatation and highlighted the lack of normal peristals is due to the loss of ICC as its possible cause. [8] They also emphasized that a multitude of histopathological findings suggest different subtypes of segmental dilatation. [11] Architectural anomalies of muscularis propria including supernumerary muscle coats and irregular orientation are known, but a reversal of muscular arrangement (circular muscle layer was outer to longitudinal layer) has not been reported earlier. ...
Segmental ileal dilatation is an uncommon cause of neonatal intestinal obstruction. This report highlights a rare combination of abnormal distribution of muscles in the muscularis propria and partial loss of interstitial cells of Cajal as causative factors for segmental intestinal dilatation.
... Recently, immunohistochemical staining has been reported to be useful to further detect abnormalities of neurons, muscle, and mesenchyme. Neural tissue markers, such as S-100, Ret, and MAP5, and mesenchymal markers, such as c-kit, were used to detect the underlying etiology of CSD [7][8][9][10][11]. Muscular abnormalities have been reported to contribute to the etiology of CSD; however, muscle cell markers, such as α-SMA, have not often been used. ...
Congenital segmental dilatation of the intestine can arise from various etiologies. Herein, we describe two cases of congenital segmental dilatation of intestine in extremely low birth weight infants of different etiologies, namely muscular abnormalities and absence of interstitial cells of Cajal. α-SMA stain was useful to detect the muscle abnormalities.
Chronic gastrointestinal pseudo-obstruction (CIPO) is a disorder characterized by poor digestive tract motility due to inadequate neuromuscular function [1]. Patients with this disorder manifest with recurrent episodes of failure to pass stools, like mechanical obstruction but with no proven evidence of anatomical intestinal obstruction or stricture on further investigations [2]. However, at times it is difficult clinically to distinguish these two entities. Symptoms of CIPO vary from patient to patient depending on the location of the non-function and the degree of pathological involvement; however, the small intestine is nearly always involved. Common presenting features include dysphagia, gastroesophageal reflux, abdominal pain, nausea, vomiting, bloating, abdominal distension, constipation or diarrhea, and involuntary weight loss [3]. Unfortunately, these symptoms are nonspecific, which can contribute to misdiagnosis or a delay in diagnosis and treatment. Since many of the symptoms and signs suggest a mechanical bowel obstruction, diagnostic tests to uncover a mechanical obstruction are needed. The severity of the clinical picture, generally characterized by disabling digestive symptoms even between sub-occlusive episodes, contributes to the deterioration of the quality of life of affected patients. The common causes of mechanical intestinal obstruction are inflammatory or malignant strictures as, intestinal tuberculosis, Crohn’s disease, or the presence of an occluding tumor mass. After ruling out all possible causes of mechanical obstruction, the diagnosis of CIPO is considered. CIPO can be caused by disturbances in the enteric nervous system, extrinsic nervous system, intestinal smooth muscle layers, or absence of the pulse-generating interstitial cell of Cajal (ICC). The disorders can be inherited or acquired secondary to systemic disease involvement, as amyloidosis, hypothyroidism, etc. (Please refer to 7 Chap. 14 for a detailed description.) Hence, the primary CIPO can be classified as congenital (present at birth), familial (most likely genetic), or sporadic (seemingly occurring at random) types. While in adults CIPO is primarily sporadic, in children, these are mostly inherited [4]. Not infrequently the cause of CIPO cannot be determined. Detailed clinical and histopathological investigation is needed including clinical examination, imaging, manometric studies, and diligent histological examination of the affected segment [3]. It is relatively difficult to treat patients affected with CIPO, and supplementation of the nutritional requirement often becomes the primary challenge.
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.
Purpose:
To assess the thickness of the intestinal smooth muscle layer and analyze the distribution and density of interstitial cells of Cajal (ICC) and enteric neurons in the proximal and distal segments of neonatal jejuno-ileal atresia.
Methods:
This is an observational study done over a period of one year in which fifteen cases of jejuno-ileal atresia were included. All the cases underwent laparotomy and resection of the atretic segment with variable portions of the dilated proximal segment and distal segment. Histopathological analysis was done on the sections taken from proximal segments (at 3 cm, 5 cm & 8 cm) and the distal segment (at 2 cm) from the atretic portion. The mean thickness of the inner circular muscle layer (ICML) and outer longitudinal muscle layer (OLML) was assessed in the above segments using image morphometry. In addition, we also analyzed the distribution and density of the ICCs and enteric neurons in the different segments using immunohistochemistry for c-kit and S-100, respectively. Controls included normal jejuno-ileal segments resected from postmortem cases (n=7) and other nonrelated surgeries (n=3). The findings were then compared with each-other and with normal controls.
Results:
Mean thickness of ICML and OLML of the proximal segments at 8 cm was significantly lower than at 3 cm and 5 cm of ileal and jejunal atresias (p≪ 0.5). The mean thickness of ICML and OLML of distal segments at 2 cm was similar to the controls in all the atretic cases (p≫ 0.5). The mean ICML thickness at proximal 8 cm segment was similar to the distal segment of both ileal & jejunal atresias (p= 0.06 & 0.37 respectively). The mean thickness of the OLML of the proximal 8 cm segments was significantly more than that at the distal segment (p=0.008) in ileal atresias but was similar in cases of jejunal atresias (p=0.07). Both the proximal and distal segments of ileal as well as jejunal atresias showed reduction in distribution and density of ICCs, as compared to normal controls. The density of ICCs in proximal segments at 3 cm and 5 cm was similar in both ileal (p=0.33) and jejunal segments (p=0.41) but was significantly lower than the proximal 8 cm segments (p≪0.05).The distribution of ICCs in the proximal segment at 8 cm was similar to the distal segments (p≪0.05). S-100 staining showed dense expression of neurons and glial cells with presence of submucosal giant ganglia within the proximal dilated segments as compared to the distal segments and the controls, which were more marked at 3 cm and 5 cm levels than at 8 cm level.
Conclusion:
Muscle morphometry using image analysis is a simple technique to assess the thickness of the intestinal smooth muscle layers. There is significant smooth muscle hypertrophy along with marked alteration in density and distribution of ICCs and ENS in the dilated proximal segments up to 5 cm, and relatively milder changes at 8 cm levels, as compared to the distal segments and the controls.
Type of study:
Prognosis study.
Level of evidence:
Level II.
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.
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.
