Indian Journal of Pathology and Microbiology
Home About us Instructions Submission Subscribe Advertise Contact e-Alerts Ahead Of Print Login 
Users Online: 367
Print this page  Email this page Bookmark this page Small font sizeDefault font sizeIncrease font size


 
  Table of Contents    
CASE REPORT  
Year : 2022  |  Volume : 65  |  Issue : 3  |  Page : 673-675
Isolated intestinal neuronal dysplasia- type B of ileum: A rare occurrence


1 Department of Pathology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
2 Department of Pathology, Homi Bhabha Cancer Hospital/Mahamana Pandit Madan Mohan Malaviya Cancer Centre, Varanasi, Uttar Pradesh, India

Click here for correspondence address and email

Date of Submission20-Jun-2021
Date of Decision30-Oct-2021
Date of Acceptance20-Nov-2021
Date of Web Publication21-Jul-2022
 

   Abstract 


Intestinal neuronal dysplasia type B in the gastrointestinal tract is a rare occurrence and may occur alone or in combination with Hirschsprung disease. Distal colon seems to be a frequent site for isolated IND-B cases; however, small bowel involvement is scarcely reported. We report a case of 9 years old boy presenting with features of intestinal pseudo-obstruction for 5 years. Exploratory laparotomy revealed narrowed distal ileum with huge proximal dilatation. Histopathology of the resected terminal ileum revealed giant submucosal ganglion, hyperplastic submucosal nerves, and ectopic ganglion cells in the lamina propria suggestive of IND-B. Although IND-B involving ileum in isolation is a rare occurrence, suspicion should be kept in cases of intestinal obstruction with minimal response to conventional treatment.

Keywords: Child, ileum, intestinal neuronal dysplasia type B, intestinal pseudo obstruction

How to cite this article:
Rao RN, Yadav R, Sengar P. Isolated intestinal neuronal dysplasia- type B of ileum: A rare occurrence. Indian J Pathol Microbiol 2022;65:673-5

How to cite this URL:
Rao RN, Yadav R, Sengar P. Isolated intestinal neuronal dysplasia- type B of ileum: A rare occurrence. Indian J Pathol Microbiol [serial online] 2022 [cited 2022 Oct 1];65:673-5. Available from: https://www.ijpmonline.org/text.asp?2022/65/3/673/351609





   Introduction Top


Intestinal neuronal dysplasia type-B (IND-B) is a rare congenital malformation of gastrointestinal innervation caused by dysplastic embryonal development of the enteric nervous system. The current diagnostic criteria as revised by the pioneers of IND are as follows: Minimum of 25 submucosal ganglia must be analyzed with more than 20% of submucosal ganglia having features of giant ganglia (>8 ganglion cells per cross-section) and the patient must be older than 1 year.[1]

The changes associated with IND-B are more common in the distal colon; however, they can affect any segment of the enteric nervous system and occur in different age groups ranging from newborns to adult, alone or in combination with Hirschsprung disease (HD).[1] Very rarely isolated ileal involvement has been reported.[2] We herewith report a case of IND-B in the ileum of a child presenting as chronic intestinal pseudo-obstruction (CIP).


   Case History Top


A 9-year-old boy presented with intermittent abdominal pain and fullness sensation from 4 years of age. He had a history of poor bowel habits with encopresis since 2 and ½ years of age. Antenatal and natal histories were uneventful. Histories of delayed passage of meconium, recurrent vomiting, retentive posturing or blood in stool were absent. Child had 2-3 episodes of febrile seizure which remitted on its own. He had received empirical anti-tubercular therapy for a duration of 11 months for the presenting complaints, although there were no other systemic symptoms. There was no significant family history.

On general examination child's weight was 24.8 kg (3rd-10th centile), height 138 cm (10th- 50th centile) with failure to thrive. There was no pallor, icterus, edema, or lymphadenopathy. On abdominal examination, inspection revealed distended abdomen with few prominent veins and visible peristalsis and borborygmi was present. There was no organomegaly on palpation. On per-rectal examination, there were no fissures, tags or gush of air and soft stool was palpable. Cardiovascular, respiratory, and neurological examination showed no abnormalities.

On upper gastrointestinal endoscopy, esophagus and stomach were normal. X-ray abdomen, erect posture, showed dilated small bowel loops with multiple air-fluid levels. Computed tomography of abdomen showed collapsed proximal jejunum and terminal ileum with dilated lower small bowel loops [Figure 1]. Patient was evaluated for pseudo-obstruction. Exploratory laparotomy revealed narrowed distal ileum (approximately 15 cm) with huge proximal dilatation. Cecum, appendix and rest of the colon were normal. Differential diagnosis of intestinal pseudo-obstruction, hirschsprung disease and celiac disease were kept. Resection of distal ileum, cecum and appendix measuring 13 cm in length with end to end ileo-ascending colon anastomosis was performed. No apparent dilatation of the segment was noted. Histopathology of the terminal ileum revealed giant submucosal ganglion (average 10-14 ganglion cells per ganglion), hyperplastic submucosal nerves and ectopic ganglion cells in the lamina propria [Figure 2] which was further confirmed on immunohistochemistry [Figure 3]. Muscularis propria and myenteric plexus were largely unremarkable however, serosal fat revealed hypertrophic nerve fibers. Histopathology was suggestive of IND-B. Cecum and the appendix showed no gross and histopathological abnormality. Resection margins also did not show any abnormality. At 8 months follow-up, child has gained weight. His bowel habits has improved and he is passing formed stools.
Figure 1: CT abdomen shows multifocal dilatations maximum 7 cm of lower small bowel with collapsed proximal jejunum and terminal ileum (arrows)

Click here to view
Figure 2: (a) Ileum showing mucosa and submuosa with submucosal ganglion hyperplasia highlighted by arrows (H&E, 200×). (b) Lamina propria also reveals ectopic ganglion cells (arrows) around the crypts and centered around the capillaries (H&E, 400×). (c) Giant submucosal ganglia (H&E, 400×). (d) Serosal fat with hypertrophic nerve fibers (thin arrow), occasional fibers seen insinuating into the muscularis propria highlighted by solid arrow (H&E, 200×)

Click here to view
Figure 3: Immunohistochemical staining revealing ectopic ganglion cells in the lamina propria by S100, neuron specific enolase (NSE), calretinin and neurofilament (NF) stain. The giant submucosal ganglia highlighted by S100 and NSE (black arrows)

Click here to view



   Discussion Top


The patient presented with history of CIP. On laparotomy narrowed distal ileum with proximal dilatation was present. Histopathology revealed intestinal neuronal dysplasia- type B of ileum.

The broad spectrum of pediatric enteric neuropathy with hyperganglionosis includes ganglioneuroma and IND-B. IND-B is considered to be a malformation probably resulting from the incomplete malformation of the submucosal plexus. The hallmark feature being increased “giant” submucosal ganglia (>8 ganglion cells per ganglion).[1] Ganglioneuroma on the other hand is mucosal polypoid or diffuse types. The diffuse ganglioneuromatosis have hyperplasia of neural and glial elements in both the submucosal and myentric plexuses. They are often associated with multiple endocrine neoplasia type 2b (MEN2b) and neurofibromatosis type 1(NF-1). For pathologists, it is important to classify the anatomical different forms of intestinal pseudo-obstruction for the appropriate management and follow-up.

Isolated IND-B presents as a chronic condition with signs and symptoms similar to HD. Findings range from chronic constipation and obstructive signs including abdominal distension and vomiting. Associated anomalies like anal stenosis, intestinal malrotation and malformations have been reported in 30% of cases.[3],[4] The diagnostic workup must focus to rule out organic causes of intestinal constipation, particularly HD, the most prevalent intestinal dysganglionosis. However, anorectal manometry and barium enema, established tests for HD screening, are non-specific for IND-B.[5] Thus, the diagnosis of IND-B essentially relays on histopathological analyses of rectal biopsies.[6]

In recent years, IND-B in adults has shown rising trends. Some of them have experienced symptoms of severe constipation since childhood while others had onset of symptoms at adulthood.[2],[7],[8] Our case was a child with symptoms since 4 years of age. Prognosis of IND-B is usually good, but symptoms may progress to serious complications like CIP, acute bowel obstruction or intestinal infarction. The intestinal resections should be the treatment for the refractory cases showing no improvement with at least 6 months of conservative management, or in patients having obstructive complications.[1],[9],[10]

The present case showed classic features of IND-B with changes chiefly involving the submucosal plexi with increased density of ganglion cells. The IND-B involving only the ileum is a very rare occurrence.[2]


   Conclusion Top


Suspicion for IND-B involving ileum, although rare, should be kept in patients presenting with intestinal obstruction and showing minimal response to conventional treatment.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Meier-Ruge WA, Bruder E, Kapur RP. Intestinal neuronal dysplasia type B: One giant ganglion is not good enough. Pediatr Dev Pathol 2006;9:444-52.  Back to cited text no. 1
    
2.
Vijayaraghavan R, Chandrashekar R, Melkote Jyotiprakash A, Kumar R, Rashmi MV, Shanmukhappa Belagavi C. Intestinal neuronal dysplasia (type B) causing fatal small bowel ischaemia in an adult: A case report. Eur J Gastroenterol Hepatol 2006;18:773-6.  Back to cited text no. 2
    
3.
Martucciello G, Torre M, Pini Prato A, Lerone M, Campus R, Leggio S, et al. Associated anomalies in intestinal neuronal dysplasia. J Pediatr Surg 2002;37:219-23.  Back to cited text no. 3
    
4.
Montedonico S, Acevedo S, Fadda B. Clinical aspects of intestinal neuronal dysplasia. J Pediatr Surg 2002;37:1772-4.  Back to cited text no. 4
    
5.
Gil-Vernet JM, Broto J, Guillén G. [Hirschsprung-neurointestinal dyspasia: Diferential diagnosis and reliability of diagnostic procedures]. Cir Pediatr 2006;19:91-4.  Back to cited text no. 5
    
6.
Friedmacher F, Puri P. Classification and diagnostic criteria of variants of Hirschsprung's disease. Pediatr Surg Int 2013;29:855-72.  Back to cited text no. 6
    
7.
Voderholzer WA, Wiebecke B, Gerum M, Müller-Lissner SA. Dysplasia of the submucous nerve plexus in slow-transit constipation of adults. Eur J Gastroenterol Hepatol 2000;12:755-9.  Back to cited text no. 7
    
8.
Vougas V, Vardas K, Christou C, Papadimitriou G, Florou E, Magkou C, et al. Intestinal neuronal dysplasia type B in adults: A controversial entity. Case Rep Gastroenterol 2014;8:7-12.  Back to cited text no. 8
    
9.
Schimpl G, Uray E, Ratschek M, Höllwarth ME. Constipation and intestinal neuronal dysplasia type B: A clinical follow-up study. J Pediatr Gastroenterol Nutr 2004;38:308-11.  Back to cited text no. 9
    
10.
Puri P. Intestinal dysganglionosis and other disorders of intestinal motility. In: Coran AG, Adzick NS, Caldamone AA, Krummel TM, Laberge J, Shamberger RC, editors. Pediatric Surgery. Philadelphia: Elsevier Inc.; 2012. p. 1279-87.  Back to cited text no. 10
    

Top
Correspondence Address:
Pratishtha Sengar
Department of Pathology, Homi Bhabha Cancer Hospital/Mahamana Pandit Madan Mohan Malaviya Cancer Centre, Varanasi - 221 005, Uttar Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpm.ijpm_636_21

Rights and Permissions


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

Top
 
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
   Introduction
   Case History
   Discussion
   Conclusion
    References
    Article Figures

 Article Access Statistics
    Viewed340    
    Printed38    
    Emailed0    
    PDF Downloaded11    
    Comments [Add]    

Recommend this journal