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 Table of Contents  
Year : 2022  |  Volume : 2  |  Issue : 2  |  Page : 94-97

Eosinophilic myenteric ganglionitis with degenerative leiomyopathy: Dual causes of chronic intestinal pseudo-obstruction

1 Department of Pediatric Gastroenterology, Hepatology and Liver Transplantation, Medanta – The Medicity, New Delhi, India
2 Department of Pathology, All India Institute of Medical Sciences, New Delhi, India
3 Department of Laboratory Medicine, Pathology and Blood Bank, Medanta – The Medcity, Gurgaon, Haryana, India

Date of Submission25-Jan-2022
Date of Decision28-Apr-2022
Date of Acceptance01-May-2022
Date of Web Publication30-May-2022

Correspondence Address:
Dr. Neelam Mohan
Department of Pediatric Gastroenterology, Hepatology and Liver Transplantation, Medanta . The Medicity, Sector - 38, Gurgaon, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_28_22

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Background: Chronic intestinal pseudo-obstruction (CIPO) is an umbrella term for a range of different conditions characterized by repetitive episodes or continuous symptoms and signs of bowel obstruction, including radiographic evidence of dilated intestines and air-fluid levels, due to impaired propulsion in the absence of an anatomical occluding lesion. It is a diagnostic challenge and can mimic Hirschsprung's disease. Clinical Description: A 10-month-old boy presented with a history of recurrent episodes of constipation since the age of 6.5 months. The first two had resolved with symptomatic treatment. The third had been associated with bilious vomiting and required exploratory laparotomy. He was referred to us when there was no symptomatic improvement. The child underwent extensive workup that included a review of earlier investigations (contrast-enhanced computerized tomography abdomen, barium enema, and sigmoid biopsy) as well as upper gastrointestinal endoscopy, workup for secondary CIPO, esophageal and antroduodenal manometry, genetic studies, for primary CIPO. A laparotomy with concurrent adhesionolysis, appendectomy, gastrostomy, and ileostomy was undertaken, which included full-thickness biopsies at multiple sites. This revealed both degenerative leiomyopathy and eosinophilic myenteric ganglionitis (EMG). Known associations of CIPO, an underactive bladder, and sinus arrhythmias were also detected. Management: The infant was provided with supportive therapy. A trial of steroids was given for the EMG. The child had multiple bad prognostic factors and also protracted multiple nosocomial infections. He succumbed to his illness and complications after 40 days of hospitalization. Conclusion: The combination of EMG and degenerative leiomyopathy has not been reported in CIPO before.

Keywords: Degeneration, eosinophilic ganglionitis, Hirschsprung's disease mimicker, leiomyopathy, pseudo-obstruction

How to cite this article:
Deswal S, Mohan N, Prasenjit, Lipi L. Eosinophilic myenteric ganglionitis with degenerative leiomyopathy: Dual causes of chronic intestinal pseudo-obstruction. Indian Pediatr Case Rep 2022;2:94-7

How to cite this URL:
Deswal S, Mohan N, Prasenjit, Lipi L. Eosinophilic myenteric ganglionitis with degenerative leiomyopathy: Dual causes of chronic intestinal pseudo-obstruction. Indian Pediatr Case Rep [serial online] 2022 [cited 2022 Jul 4];2:94-7. Available from: http://www.ipcares.org/text.asp?2022/2/2/94/346252

Chronic intestinal pseudo-obstruction (CIPO) is an umbrella term for a range of different conditions characterized by repetitive episodes or continuous symptoms and signs of bowel obstruction, including radiographic evidence of dilated intestines and air-fluid levels, due to impaired propulsion in the absence of an anatomical occluding lesion. The motor alterations lead to the inability for normal transit of nourishment and secretions along the gastrointestinal tract. The prevalence of CIPO is largely unknown in children. A nationwide survey in Japan reported a prevalence of 3.7 in 100,000 children under 15 years of age.[1] The clinical presentation is heterogeneous depending on the predominant segment of intestinal involvement, and includes abdominal distention, vomiting, constipation, failure to thrive and abdominal pain. Diarrhea is often present due to the slow transit of ingested food within the intestines. This triggers a sequence of bacterial overgrowth, malabsorption, and malnutrition. The most severe disorders display antenatal evidence of dilation of the gastrointestinal and urinary systems. This subset represents the most common group of pediatric CIPO patients with diffuse involvement of the GI tract. In a review of 105 pediatric cases of CIPO, approximately 75% presented within the 1st year of life, with 67% presenting within the 1st month. Prenatal signs are detected in about 20% of cases.[2]

CIPO may be primary, secondary (collagen vascular disorders, paraneoplastic conditions, autoimmune or metabolic disorders) or a part of syndromes, i.e., the megacystis-microcolon-intestinal hypoperistalsis syndrome. It may also be broadly classified as myopathic or neuropathic according to the underlying pathophysiology. Till date, there are only few cases which have reported eosinophilic myenteric ganglionitis (EMG) as the cause. EMG is an inflammatory neuropathy, characterized by a marked eosinophilic infiltration of the myenteric plexus/myenteric ganglia, which causes intestinal obstruction.[2],[3],[4] Degenerative leiomyopathy is a myopathy characterized by a prolonged history of abdominal distention and megacolon and has been reported exclusively in young Africans.[3],[4],[5]

In this report, we present a case of an infant of Indian origin with CIPO due to a dual pathology, biopsy-proven EMG, and concomitant degenerative leiomyopathy. To the best of our knowledge, it has not been reported earlier in literature.

  Clinical Description Top

A 10-month-old boy was referred to us with complaints of abdominal distension, bilious vomiting, and constipation for 2 weeks. At 9.5 months, he had bilious vomiting, constipation, and abdominal distension, for which he was admitted to a local hospital. According to parental history and whatever medical records were available, he had undergone a barium enema (that had shown a transition zone in mid sigmoid) and contrast-enhanced computerized tomography (CECT) of the abdomen. Based on these, Hirschsprung's disease had been suspected and he underwent exploratory laparotomy with a sigmoid colostomy. Peroperative colonic biopsy (frozen section) was suggestive of absent ganglionic cells. The child did not show any improvement postoperatively and underwent a colostomy revision to descending colostomy on the 3rd postoperative day. When he was started on a liquid diet subsequently, the child developed abdominal distension and bilious aspirates again. That was the reason for the referral for further evaluation and management to our tertiary center.

We reviewed all aspects of history. It emerged that the child had been experiencing recurrent episodes of constipation: for a few days at 6.5 months of age which was relieved with over-the-counter laxatives; at 7.5 months, for which he was started on laxatives and some household remedies for 2 weeks and showed symptomatic improvement; and the last episode at 9.9 months, when he was operated on. A history of intermittent dribbling of urine was also elicited. There was no history of his receiving treatment for urinary tract infections. The infant had been started on complementary feeds at 6 months, and the diet and water intake were adequate.

The boy was the second issue of unrelated parents with a history of a previous abortion. The mother had hypothyroidism, for which she had been prescribed Thyronorm (100 μg) and was compliant. She also had cholestasis of pregnancy that was managed conservatively. An antenatal ultrasound showed mild right pelvicalyceal separation and hydronephrosis. The baby was born by at term gestation by normal vaginal delivery. His birth weight was 3.5 kg, and he cried immediately after birth. The perinatal period had been uneventful, he had passed meconium within 24 h of life, the routine newborn screening evaluation was normal, and he was discharged as per hospital protocol. According to his parents, the infant achieved all milestones normally till he fell ill and was completely immunized for age. There was no significant family history. His 7-year-old brother was healthy.

At admission, the child was hemodynamically stable. His temperature was normal, pulse rate 94/min, respiratory rate 24/min, SpO2 98% in room air, and blood pressure 90/70 mm Hg in the right arm supine position. Anthropometric parameters revealed a weight of 8 kg (between 3 and 50th centile of the Indian Academy of Pediatrics [IAP] growth chart), and a length of 80 cm (97th centile on the IAP chart). The in situ nasogastric tube contained bilious aspirates. There was no pallor, icterus, edema, or dysmorphic features. Abdominal examination revealed generalized abdominal distension, a tympanitic note in the upper abdomen, bladder dullness, and sluggish bowel sounds in all four quadrants. There was no guarding, rigidity, tenderness, or organomegaly. The rest of the systemic examination was normal.

A clinical possibility of pseudo-obstruction due to dysmotility was kept. The points in favor were feeding intolerance, continuous bilious aspirates, abdominal distension, and sequential X-rays showing extensive small bowel dilatation in the absence of any significant anatomical obstruction on the CT scan. A history of intermittent dribbling of urine was also in favor of the above diagnosis. The points against were the biopsy report of absent ganglionic cells. An alternative diagnosis that was also considered was postoperative complications secondary to adhesions that may have developed and resulted in subacute intestinal obstruction. The third, albeit remote, possibility of total colonic aganglionosis or hypoganglionosis was also kept. However, the late presentation and absence of microcolon were points against this differential.

  Management and Outcome Top

The infant was kept on intravenous fluids, nil per orally, with continuous Ryle's tube aspiration. His abdominal roentgenogram revealed significantly dilated small bowel loops. The CECT abdomen and the barium enema study were reviewed. Since there was predominant small bowel dilatation without significant dilation of the large bowel loops, the possibility of a transition zone in the distal ileum was considered. However, in view of the nondilated distal colon and the absence of an obvious transition in the rectosigmoid area, Hirschsprung's disease appeared to be less likely. We also reviewed the frozen sections of the previously conducted sigmoid biopsy. Presence of ganglion cells in all the three specimens with positivity for calretinin on immunohistochemistry (IHC), effectively ruled out Hirschsprung's disease. An upper gastrointestinal (GI) endoscopy was performed that showed a dilated stomach with a wide and open pylorus. The following secondary causes were ruled out by lack of specific findings on the endoscopy as well as negative test results: hypothyroidism (thyroid-stimulating hormone– 1.51 pg/ml and Free T4 0.86 ng/dl), hypoparathyroidism (PTH 30.2 pg/ml), celiac disease (tTg Ig A <3 U/ml), cytomegalovirus and Epstein–Barr virus infection by negative polymerase chain reaction, systemic lupus erythematosus (negative anti-nuclear antibody), muscular dystrophy (creatine phosphokinase <20 U/L), eosinophilic gastroenteritis (no evidence on endoscopic biopsies), and food allergy (immunoglobulin E panel not contributory).

Esophageal and antroduodenal manometry was attempted to investigate whether the cause of the pseudo-obstruction was myopathic or neuropathic, but only a partial study was possible as child was not very cooperative when asked to swallow during the study of an hour (since the child needs to comply with instructions this invasive procedure cannot be done under the influence of anesthesia or sedatives). This revealed doubtful peristalsis in the esophagus with absent contractile activity in the stomach. We were unable to perform colonic manometry due to the colostomy and nonavailability of the appropriate catheter size. Clinical exome sequencing for primary/idiopathic CIPO was also non-contributory.

In view of the report of possible renal anomalies in the antenatal ultrasonogram (but had not been investigated further), history of intermittent urinary dribbling, and the finding of an overstretched bladder on the CECT abdomen, we planned a vesico-cystourethrogram. This reported a large bladder (with 270% extended bladder capacity). The urine study also revealed large bladder capacity and delayed bladder sensation (with more than 200% filling) indicative of an underactive bladder. This was managed by enabling the parents to perform clean intermittent bladder catheterization and neuromodulation physiotherapy. A cardiac evaluation was undertaken due to known cardiac associations with CIPO. The electrocardiogram displayed sinus arrhythmia, and the echocardiography was normal.

The child was started on a minimal number of nasogastric feeds (7.5 ml peptide formula given every 2 hours), but were withheld due to recurrence of feed intolerance. The same thing happened when the modality was changed to nasojejunal feeding; the child continued to have large aspirates with significant bowel distension (predominantly the small bowel), so they were also stopped. Therefore, the child's nutritional requirements were provided by the parenteral route (kabiven peri twice a week and aminoven thrice a week).

On the 15th day of admission, the child developed a fever and was investigated, suspecting a nosocomial infection. This was confirmed by a positive C-reactive protein and Klebsiella growth in the blood culture. Urine routine microscopy detected fungal hyphae and the fungal culture grew candida albicans. They were managed with antibiotics (meropenem and tigecycline as per drug sensitivity) and antifungals (fluconazole) as per hospital protocol.

The child stopped passing stools through colostomy on the 20th day of admission and developed increased bilious aspirates. A Gastrografin study revealed dilated proximal intestinal loops with reflux of contrast into the stomach, raising the suspicion of an obstruction at the level of the ileum. A CECT was repeated, which revealed small bowel intestinal obstruction with a possible transition zone in the right iliac fossa. The possibility of adhesions at the level of mid ileal loops was considered and we decided to perform a laparotomy with concurrent adhesionolysis, appendectomy, gastrostomy, and ileostomy.

Full-thickness biopsies were taken from the stomach, duodenum, jejunum, and colon. Histopathology revealed a significant infiltrate of eosinophils, with eosinophilic cryptitis in the mucosa. These infiltrated both the layers of muscularis propria, and the ganglions in the inter-myenteric plexus. Eosinophil degranulation was also present [Figure 1]. The smooth muscle layers of the stomach, colon, and inner circular layer of the small bowel wall showed features of degenerative myopathy, with smooth muscle actin and desmin stain displaying loss of the muscle fibrils [Figure 2]. There was no evidence of fibrosis, vasculitis, vacuolation of the muscle fibers, or abnormal thickening of muscle layers. The muscularis mucosae were unremarkable. There was no evidence of aganglionosis, hypoganglionosis, or intestinal neuronal dysplasia. Stains for Interstitial cells of Cajal were present in most areas but partially lost in the stomach (possibly secondary to the degenerative changes). Significant lymphoid cell infiltration was not detected around the neuronal ganglion on CD8 IHC staining. Based on the above features, a diagnosis of degenerative leiomyopathy in the presence of eosinophilic enteritis, myositis, and myenteric ganglionitis of the intestinal wall was kept. A trial of steroids was given under the cover of antibiotics after discussion with parents. However, the clinical condition worsened and the child succumbed to culture-proven pseudomonas and Klebsiella septicemia on the 40th day of hospitalization.
Figure 1: Histological images show prominent infiltrate of eosinophils (arrows) in the ganglia of myenteric plexus (a and b: H and E, ×200) and within the layers of muscularis propria (c: arrows, H and E, ×200). The muscle layers, in addition to the eosinophilic cell infiltrate (arrow), did not reveal vacuolation of inclusion (d: H and E, ×200)

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Figure 2: Immunohistochemical staining for SMA in gastric (a: ×100), and small bowel biopsies show marked degeneration and loss of SMA-positive smooth muscle bundles from the inner circular muscle layer (b: ×100, c: ×200). Calretinin stain for the interstitial cell of Cajal showed normal cell network around the myenteric ganglion (d: ×200). SMA: Smooth muscle actin

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  Discussion Top

The clinical presentation of CIPO may be acute, subacute, or recurrent episodes of gastric, intestinal, and/or colonic obstruction. The symptoms depend on the extent and the site of gastrointestinal tract involvement. Some cases are characterized by initial normalcy of variable duration in infancy, followed by progressive intestinal failure, with bowel and often urinary tract dilatation (as in our patient). The remainder may become symptomatic throughout the first two decades of life.[6]

The concomitant pancreato-biliary system, cardiac, and urinary bladder dysfunction (with or without megacystis and megaureter) have been reported in up to one-third of cases and need to be investigated accordingly.[6] Our case had sinus arrhythmia and megacystis with a hypocontractile detrusor (bladder adynamia). There is an increased risk of volvulus, gut dilatation, adhesions, or concurrent malrotation that requires urgent surgical interventions.

Depending on the predominant involvement of enteric neurons, smooth muscles, or interstitial cells of Cajal, CIPO is histopathologically classified as neuropathy, myopathy, or mesenchymopathy. The most common form of neuropathic myenteric ganglionitis is lymphocytic ganglionitis, where the myenteric plexus is infiltrated by CD4 and CD8 positive lymphocytes. In EMG, the functional gastrointestinal obstruction is associated with eosinophilic inflammation of the myenteric plexus. Myopathies are broadly classified as inflammatory or degenerative. Degenerative myopathy may be hereditary, sporadic, or typically reported in young African children who present as megacolon without aganglionosis (pseudo Hirschsprung's disease). Histopathology in these cases reveals vacuolization and fibrosis of smooth muscle fibers. These findings were absent in this case.[7] The absence of family history and a negative clinical exome raises the possibility that the degenerative leiomyopathy was sporadic in this case degenerative myopathy.

The treatment is challenging and requires multidisciplinary effort. EMG patients have been managed with dietary modification (amino acid-based formula), immunosuppression, anti-inflammatory medications, surgery, or an eclectic combination of all.[4] Immunosuppression may be beneficial when immune-mediated insult has not completely damaged the regulatory cells. The reason why our patient did not respond to dietary modification and immunosuppressive therapy may be due to the double pathology.

The prognosis of CIPO in children remains guarded, with 30% dying in childhood and the remaining being dependent on parenteral nutrition, with frequent hospitalization. Poor prognostic factors include neonatal-onset, myopathic type, urinary involvement, and requirement of surgery.[7] The patient had concomitant myopathic involvement, an underactive bladder, sinus arrhythmias, and three surgeries, all contributing to the poor outcome.

Declaration of patient consent

The authors certify that they have obtained the appropriate consent from the parent. The legal guardian has given his consent for the images and other clinical information to be reported in the journal. The guardian understand that the name and initials will not be published, and due efforts have been made to conceal the same, but anonymity cannot be guaranteed.


We would like to acknowledge Dr. Anurag Kumar and Dr. Meera Luthra, who operated on the patient.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Iida H, Ohkubo H, Inamori M, et al. Epidemiology and clinical experience of chronic intestinal pseudo-obstruction in Japan: A nationwide epidemiologic survey. J Epidemiol 2013;23:288-94.  Back to cited text no. 1
Thapar N, Saliakellis E, Benninga MA, et al. Paediatric intestinal pseudo-obstruction: Evidence and consensus-based recommendations from an ESPGHAN-Led Expert Group. J Pediatr Gastroenterol Nutr 2018;66:991-1019.  Back to cited text no. 2
Chander B, Fiedler P, Jain D. Eosinophilic myenteric ganglionitis: A case of intestinal pseudo-obstruction in a 93-year-old female. J Clin Gastroenterol 2011;45:314-6.  Back to cited text no. 3
Ooms AH, Verheij J, Hulst JM, et al. Eosinophilic myenteric ganglionitis as a cause of chronic intestinal pseudo-obstruction. Virchows Arch 2012;460:123-7.  Back to cited text no. 4
Schäppi MG, Smith VV, Milla PJ, et al. Eosinophilic myenteric ganglionitis is associated with functional intestinal obstruction. Gut 2003;52:752-5.  Back to cited text no. 5
Muto M, Matsufuji H, Tomomasa T, et al. Pediatric chronic intestinal pseudo-obstruction is a rare, serious, and intractable disease: A report of a nationwide survey in Japan. J Pediatr Surg 2014;49:1799-803.  Back to cited text no. 6
Kaschula RO, Moore SW, Rode H, et al. Degenerative leiomyopathy in African children: A review of current perspectives. East Afr Med J 1993;70:37-9.  Back to cited text no. 7


  [Figure 1], [Figure 2]


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