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Multilocus Heterotopic of Masquerading as VEOIBD in aNewborn Livia Lindoso, MD,a Cortney R. Ballengee, MD,a Kiran P. Patel, MD,b,c Rene Romero, MD,a,c Shelley Caltharp, MD,c,d Adina L. Alazraki, MD,c,e Subra Kugathasan, MDa,c

Heterotopic gastric mucosa (HGM) is defined as the presence of gastric abstract mucosa outside of the , which is documented by histologic finding. HGM is typically a solitary lesion; however, in our Case Report, the patient presented with multilocus HGM, an uncommon form in which the small bowel is extensively involved. We report a unique case of multilocus HGM mimicking very early–onset inflammatory bowel disease with recurrent gastrointestinal bleeding, chronic inflammation, and stricturing in a newborn patient. Divisions of aGastroenterology and bAllergy and d fi Immunology, Departments of Pediatrics, Pathology and Histologic ndings from the ileocecal specimen revealed multiple ulcers Laboratory Medicine, and eRadiology and Imaging Science, surrounded by chronic inflammation. Subsequently, a Technetium-99m School of Medicine, Emory University, Atlanta, Georgia; and c ’ pertechnetate scan demonstrated an increased tracer uptake in the remaining Childrens Healthcare of Atlanta, Atlanta, Georgia ileum. This radiologic finding, in combination with the discovery of gastric Dr Lindoso reviewed the patient chart and drafted mucosa within the remainder of resected ileal specimen, led to the diagnosis the initial manuscript; Dr Caltharp did the histological analysis of the specimens and revised of HGM. was initiated, and the patient is now asymptomatic the manuscript; Dr Alazraki did the analysis of without further gastrointestinal bleeding. Increased awareness of this rare the magnetic resonance enterography and disease and performing a Technetium-99m pertechnetate early can correctly Technetium-99m nuclear scan and revised the manuscript; Drs Ballengee, Patel, Romero, and diagnose HGM and prevent disease complication. Kugathasan critically revised the draft and initial manuscript; and all authors approved the final manuscript as submitted. DOI: https://doi.org/10.1542/peds.2018-2398 Heterotopic gastric mucosa (HGM) is the We report a unique case of multilocus Accepted for publication Jan 11, 2019 presence of gastric mucosa outside of HGM mimicking very early–onset fl Address correspondence to Subra Kugathasan, MD, the stomach documented by histologic in ammatory bowel disease (VEOIBD) Division of Pediatric , Department of findings. Literature suggests that HGM can in a newborn with recurrent Pediatrics, Emory University School of Medicine, 1760 occur throughout various locations in the gastrointestinal bleeding, chronic gut Haygood Dr, W427, Atlanta, GA 30322. E-mail: body, including the , , inflammation, and stricturing. This Case [email protected] ileum, , gallbladder, and (rarely) Report is a reminder to clinicians to PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275). outside the in the consider HGM in the differential mediastinum, scrotum, , diagnosis of rectal bleeding in Copyright © 2019 by the American Academy of Pediatrics airways, and spinal cord.1 The origin of newborns. An early Technetium-99m nuclear scan would have led to a firm FINANCIAL DISCLOSURE: The authors have indicated HGM can be congenital or acquired during diagnosis of HGM and avoided the they have no financial relationships relevant to this the progress of repair of damaged mucosa, costly workup for VEOIBD and possibly article to disclose. although it is typically confined to 1 area.2,3 shortened the length of total parenteral FUNDING: No external funding. It commonly occurs in conjunction with nutrition (TPN) in our case. POTENTIAL CONFLICT OF INTEREST: The authors have other congenital malformations, including indicated they have no potential conflicts of interest Meckel diverticulum and gastrointestinal to disclose. tract duplication. The clinical presentation CASE PRESENTATION of HGM may vary depending on size and A premature boy born at 33 weeks’ To cite: Lindoso L, Ballengee CR, Patel KP, et al. location but typically includes abdominal gestation presented with , Multilocus Heterotopic Gastric Mucosa of Ileum pain, bleeding, perforation, ulceration, and , anemia, severe Masquerading as VEOIBD in a Newborn. Pediatrics. 2019;143(4):e20182398 intussusception. hypoalbuminemia, and partial bowel

Downloaded from www.aappublications.org/news by guest on October 2, 2021 PEDIATRICS Volume 143, number 4, April 2019:e20182398 CASE REPORT obstruction during the first week associated with VEOIBD (including had not previously been observed in of life. He was initially presumed to IL10R and TTC7a) did not reveal any the previous 2 resections (Fig 3). have necrotizing and known pathogenic variants. Although the patient had 2 previous therefore treated with bowel rest and Furthermore, an extensive workup ileal resections and several antibiotics. Recovery was slow, and for immunodeficiency and infection with , this was the patient continued to show partial (including dihydrorhodamine, the first time HGM was found. The despite antibiotic X-linked inhibitor of apoptosis patient subsequently underwent treatment. Ultimately, he required , T-regulatory panel, a Technetium-99m nuclear scan, prolonged TPN because of the antienterocyte antibody, which confirmed the presence of extended period of bowel rest. An enumeration panel, serum multilocus gastric mucosa in the exploratory was immunoglobulins, and remaining ileal loops, which was performed at 4 weeks of age because cytomegalovirus polymerase chain evident by the increased tracer of the continued rectal bleeding and reaction in blood and urine) was uptake (Fig 4). Because of the bowel obstruction. The surgical unremarkable. The patient’s clinical presence of multilocus HGM, the specimen revealed severe thickening course lacked symptoms suggestive patient was initiated on high-dose of the ileum as well as a stricture. of systemic inflammation, multiorgan proton-pump inhibitor (PPI) therapy The patient consequently underwent autoimmunity, recurrent or severe (omeprazole, 20 mg twice per day), ileocecal resection with infection, or perianal fistulas, any of and eventually, he was advanced to and colonic mucous fistula. Histology which would be consistent with full enteral nutrition without further revealed chronic organizing and VEOIBD. The patient failed multiple need for TPN by the age of 24 perforating ulcerations surrounded medical therapies, including months. Because of the significant by chronic inflammation. Despite the corticosteroids and azathioprine, and ileal loss and the risk for resection, the patient continued to continued to have intermittent rectal deficiency and bile salt–induced have an ileal obstruction and bleeding, poor enteral tolerance, and diarrhea, the patient was started on underwent repeat ileal segmental poor growth. The patient continued regular vitamin B12 injections and resection secondary to recurrent to be dependent on TPN at 18 months cholestyramine. The patient has been stricture 7 weeks after the initial first of age because enteral nutrition doing well with improved growth procedure. Interestingly, the advancement was repeatedly delayed (height 10th percentile; weight 25th pathology report from the specimen by intermittent small-bowel percentile) while on omeprazole with revealed crypt abscesses and obstruction. no signs of gastrointestinal bleeding ulceration (Fig 1), which was at the age of 30 months. consistent with VEOIBD. A A magnetic resonance enterography was performed and (MRE) was performed and revealed DISCUSSION revealed macroscopic chronic yet another ileal stricture (Fig 2). The inflammation of the ileum. A patient underwent a third ileal The most common causes of lower commercially available targeted gene segmental resection given the MRI gastrointestinal bleeding in the panel (MM160 Inflammatory Bowel results and symptoms of bowel neonatal and infantile period are Disease: Sequencing Panel; EGL obstruction. During this operation, Meckel diverticulum, polyps, clotting Genetics, Tucker, GA), which scattered HGM was noted throughout disorders, arteriovenous fistulas, and sequences 26 genes known to be the affected segment of ileum, which (uncommonly) VEOIBD.3,4 Although

FIGURE 1 Crypt abscesses and ulceration. A, Stricture with circumferential mucosal ulceration (arrows) with focal fissuring ulceration (rectangular) to the muscularis propria. No residual crypts are seen. B, Adjacent acute cryptitis (arrows). C, Crypt abscesses.

Downloaded from www.aappublications.org/news by guest on October 2, 2021 2 LINDOSO et al mucosa outside of the stomach confirmed by histology (Fig 3). These histologic findings can be divided into type I, consisting of gastric and foveolar , and type II, consisting of only foveolar epithelium.22 Type I is thought to have a congenital origin, whereas type II may have originated from metaplastic processes.22 Other histologic findings associated with HGM are foveolar hyperplasia and mild lymphocytic infiltration.22 In our FIGURE 4 case, the patient presented with type Technetium-99m pertechnetate Meckel scintig- I, which according to the literature is FIGURE 2 raphy. Shown is a linear increased focus of the most common histologic T2 fat-suppressed coronal image from MRE radiotracer in the small bowel (red arrows) presentation. revealing abnormal wall thickening (arrows) of corresponding to the affected abnormal loop a distal ileal loop with an upstream ileal stric- on MRE. Pertechnetate is taken up by gastric Radiologic findings of HGM are not ture (arrowheads). mucosa in the early phase (note the simulta- neous uptake in the stomach). classic or diagnostic; hence, Technetium-99m pertechnetate scintigraphy is considered to be the rare, HGM should be considered perforation and intestinal bleeding. diagnostic procedure of choice when a differential diagnosis for recurrent Unlike our case, none of the patients HGM is suspected. However, several gastrointestinal bleeding in pediatric in these reported cases presented challenges emerge in the application populations.3,5 Interestingly, with multilocus HGM or received of the Technetium-99m pertechnetate incidental findings of asymptomatic PPIs. Eight additional pediatric scintigraphy procedure, mostly HGM in the small bowel occur in reports, revealing HGM in the small ∼ pertaining to its low sensitivity and 0.5% of patients who undergo bowel, were published in the past 5 – specificity. For instance, Technetium- endoscopy, with boys tending to be decade.3,9 16 Similar to in our case, in 99m is taken up by the - slightly more affected than girls.6 3 of the 8 cases, Technetium-99m producing cells of the gastric mucosa pertechnetate scintigraphy was used and secreted into the of the The first reported case report of HGM to confirm the diagnosis.3,9,10 In only intestine. Normal distribution of the in the small bowel was published in 1 case was a patient presented with 7 tracer includes uptake in the , 1912. Approximately 30 additional multilocus HMG and needed 2 8 lungs, and thyroid and salivary reports were published by 1990. In resections and PPI to achieve those cases, the most common 9 glands, although these are not usually symptoms relief. fi presentation was intestinal in the eld of view. It is also seen in intussusception, followed by HGM is most commonly reported to vascular organs during uptake and be localized in the esophagus and excreted by the urinary tract. Meckel diverticulum. It rarely occurs However, this radiotracer may be in the ileum without a Meckel detected outside of the stomach and diverticulum, as in our case. In urinary tract because of anomalies addition, HGM may appear such as bleeding into abdominal or polypoidal, nodular, or flat under gluteal hematomas, varices, aortic endoscopic visualization. HGM is aneurysms, hemangiomas, and active usually focal; however, long-segment inflammation. or multifocal areas have rarely been – The primary treatment option for reported.9,17 21 Despite HGM being extensive HGM is surgical resection of a rare differential diagnosis, our the diseased tissue21; therefore, report reveals that it should be Technetium-99m pertechnetate considered when other causes of FIGURE 3 scintigraphy plays an important role recurrent lower gastrointestinal Type I gastric heterotopia. Mature gastric mu- in characterizing the extent and cosa completely replaces normal enteric mu- bleeding seem unlikely. cosa with surface foveolar epithelial lining (arrows) location of enteric involvement to aid and fundic glands containing chief and parietal The gold standard for diagnosing with local staging and surgical cells (asterisk). HGM is finding the presence of gastric planning.21 MRE can be useful in

Downloaded from www.aappublications.org/news by guest on October 2, 2021 PEDIATRICS Volume 143, number 4, April 2019 3 providing a detailed anatomic 3. Davis JS, Hirzel AC, Rodriguez MM, review. Medicine (Baltimore). 2017; assessment; however, it cannot Neville HL, Sola JE. Heterotopic gastric 96(1):e5854 ’ identify the etiology like the mucosa mimicking a Meckels 14. Shah AD, Kovanlikaya A, Beneck D, Technetium-99m pertechnetate scan. diverticulum in a young girl. J Pediatr Spigland N, Brill PW. Segmental Surg – If residual HGM is present after . 2015;50(5):879 881 dilatation of the ileum in a healthy surgical resection of the most affected 4. Pant C, Olyaee M, Sferra TJ, Gilroy R, adolescent. Pediatr Radiol. 2009;39(12): tissue, the use of a PPI is Almadhoun O, Deshpande A. Emergency 1350–1353 recommended, which provides relief department visits for gastrointestinal 15. Ben Brahim M, Belghith M, Mekki M, by reducing the acid-secreting bleeding in children: results from the et al. Segmental dilatation of the Nationwide Emergency Department capacity of the HGM.23 intestine. J Pediatr Surg. 2006;41(6): Sample 2006-2011. Curr Med Res Opin. 1130–1133 2015;31(2):347–351 CONCLUSIONS 16. Porreca A, Capobianco A, Terracciano C, 5. Leng S, Ghionzoli M, Caporalini C, D’Onofrio V. Segmental dilatation of the Our report demonstrates an unusual Buccoliero AM. Long-term intestinal ileum presenting with acute intestinal case of congenital multilocus HGM of bleeding in a child: a rare case of bleeding. J Pediatr Surg. 2002;37(10): the ileum mimicking VEOIBD in heterotopic gastric mucosa in the 1506–1508 a newborn. HGM should be suspected jejunum. BMJ Case Rep. 2016;2016: bcr2016216949 17. Lambert MP, Heller DS, Bethel C. when symptoms and histologic Extensive gastric heterotopia of the findings from resected specimens and 6. Yu L, Yang Y, Cui L, Peng L, Sun G. resulting in massive biopsies do not correlate. 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Turck D, Bonnevalle M, Gottrand F, 818–820 the correct diagnosis of HGM. Farriaux JP. Intraoperative endoscopic 19. Bueno RC, Hardman JM, Shim WK. diagnosis of heterotopic gastric Intraoperative localization of ectopic mucosa in the ileum causing recurrent gastric mucosa in the nonduplicated acute intussusception. J Pediatr intestinal lumen with technetium 99m ABBREVIATIONS – Gastroenterol Nutr. 1990;11(2):275 278 pertechnetate scanning. J Pediatr Surg. HGM: heterotopic gastric mucosa 9. Jimenez JC, Emil S, Steinmetz B, 2001;36(11):1720–1721 MRE: magnetic resonance Romansky S, Weller M. Recurrent 20. Shehata B, Chang T, Greene C, et al. enterography gastrointestinal tract bleeding Gastric heterotopia with extensive PPI: proton-pump inhibitor secondary to jejunal gastric involvement of the small intestine TPN: total parenteral nutrition heterotopia. 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Downloaded from www.aappublications.org/news by guest on October 2, 2021 4 LINDOSO et al Multilocus Heterotopic Gastric Mucosa of Ileum Masquerading as VEOIBD in a Newborn Livia Lindoso, Cortney R. Ballengee, Kiran P. Patel, Rene Romero, Shelley Caltharp, Adina L. Alazraki and Subra Kugathasan Pediatrics originally published online March 21, 2019;

Updated Information & including high resolution figures, can be found at: Services http://pediatrics.aappublications.org/content/early/2019/03/19/peds.2 018-2398 References This article cites 23 articles, 2 of which you can access for free at: http://pediatrics.aappublications.org/content/early/2019/03/19/peds.2 018-2398#BIBL Subspecialty Collections This article, along with others on similar topics, appears in the following collection(s): /Newborn Infant http://www.aappublications.org/cgi/collection/fetus:newborn_infant_ sub Gastroenterology http://www.aappublications.org/cgi/collection/gastroenterology_sub Permissions & Licensing Information about reproducing this article in parts (figures, tables) or in its entirety can be found online at: http://www.aappublications.org/site/misc/Permissions.xhtml Reprints Information about ordering reprints can be found online: http://www.aappublications.org/site/misc/reprints.xhtml

Downloaded from www.aappublications.org/news by guest on October 2, 2021 Multilocus Heterotopic Gastric Mucosa of Ileum Masquerading as VEOIBD in a Newborn Livia Lindoso, Cortney R. Ballengee, Kiran P. Patel, Rene Romero, Shelley Caltharp, Adina L. Alazraki and Subra Kugathasan Pediatrics originally published online March 21, 2019;

The online version of this article, along with updated information and services, is located on the World Wide Web at: http://pediatrics.aappublications.org/content/early/2019/03/19/peds.2018-2398

Pediatrics is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. Pediatrics is owned, published, and trademarked by the American Academy of Pediatrics, 345 Park Avenue, Itasca, Illinois, 60143. Copyright © 2019 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 1073-0397.

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