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Diagnostics
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Pediatric Gastrointestinal Pathology
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Pediatric Gastrointestinal Pathology

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 4151

Special Issue Editor

Dr. Juan Putra

E-Mail Website
Guest Editor
Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA
Interests: pediatric pathology; liver pathology; vascular anomalies; gastrointestinal pathology

Special Issue Information

Dear Colleagues,

Special considerations are required for the evaluation of gastrointestinal pathology in the pediatric population. The spectrum of pediatric gastrointestinal tract disorders is broad, and the diagnosis often requires a different approach from that in adults. In addition, certain conditions (e.g., congenital enteropathies, monogenic inflammatory bowel disease) are rarely encountered, even at large pediatric centers. Thus, these specimens pose unique diagnostic challenges for many practicing pathologists. The aim of this Special Issue is to highlight recent advances in the field of pediatric gastrointestinal pathology. This Special Issue will also provide a practical overview of relevant disorders for pathologists and clinicians who diagnose and manage pediatric patients. Various types of articles (e.g., case series, original research, reviews) on common and rare entities are welcome.

Dr. Juan Putra
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • inflammatory bowel disease
  • crohn disease
  • celiac disease
  • ulcerative colitis
  • vascular anomalies
  • eosinophilic esophagitis

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Published Papers (4 papers)

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Research

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14 pages, 439 KiB  
Article
Decoding Pediatric Laryngopharyngeal Reflux: Unraveling Symptoms Through Multichannel Intraluminal Impedance and pH Insights
by Ivan Pavić, Petar Prcela, Josip Pejić, Irena Babić, Ana Močić Pavić and Iva Hojsak
Diagnostics 2025, 15(1), 34; https://doi.org/10.3390/diagnostics15010034 - 26 Dec 2024
Viewed by 748
Abstract
Background: The relationship between symptoms of laryngopharyngeal reflux (LPR) and objective reflux measurements obtained through multichannel intraluminal impedance-pH (MII-pH) monitoring remains unclear. Objectives: The aim of this study was to investigate the relationship between LPR symptoms and objective reflux episodes and possible associations [...] Read more.
Background: The relationship between symptoms of laryngopharyngeal reflux (LPR) and objective reflux measurements obtained through multichannel intraluminal impedance-pH (MII-pH) monitoring remains unclear. Objectives: The aim of this study was to investigate the relationship between LPR symptoms and objective reflux episodes and possible associations between fibreoptic ENT findings, eosinophil counts, and serum IgE levels with reflux episodes detected by MII-pH. Methods: In this prospective study, MII-pH monitoring, fiberoptic laryngoscopy, nasal swabs for eosinophils, total serum IgE levels, and symptom assessment (Reflux Symptom Index, RSI) were performed in all children with suspected LPR. The Reflux Findings Score (RFS) was determined based on the laryngoscopy findings. Results: A total of 113 patients (mean age, 8 years) with LPR symptoms were included in the study. The number of reflux episodes was highest in children with chronic cough and recurrent broncho-obstruction. Secondary outcomes showed positive correlations between reflux episodes and ENT findings, particularly hypopharyngeal hyperemia, arytenoid hyperemia, and arytenoid erythema (p < 0.01, p < 0.001, and p < 0.001, respectively). The number of total, acidic, and weakly acidic reflux episodes was significantly positively correlated with RSI and RFS. Proximal total, acidic, and weakly acidic reflux episodes showed significant correlations with eosinophil counts in nasal swabs but negative correlations with serum IgE levels. Conclusions: This study highlights the significant role of weakly acidic reflux in pediatric LPR and its association with respiratory symptoms. Our findings emphasize the importance of objective monitoring techniques in the assessment of LPR and provide insights for refining diagnostic and management strategies. Full article
(This article belongs to the Special Issue Pediatric Gastrointestinal Pathology)
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12 pages, 2866 KiB  
Article
Pediatric Crohn’s Disease in the Upper Gastrointestinal Tract: Clinical, Laboratory, Endoscopic, and Histopathological Analysis
by Dunja Putniković, Jovan Jevtić, Nina Ristić, Ivan D. Milovanovich, Miloš Đuknić, Milica Radusinović, Nevena Popovac, Irena Đorđić, Zoran Leković and Radmila Janković
Diagnostics 2024, 14(9), 877; https://doi.org/10.3390/diagnostics14090877 - 24 Apr 2024
Cited by 3 | Viewed by 1775
Abstract
Crohn’s disease (CD) is a progressive, multifactorial, immune-mediated disease characterized by chronic inflammation of any part of the gastrointestinal (GI) tract. Pediatric patients present with a more extensive form of the disease, especially in the upper GI tract with various histopathological inflammatory patterns. [...] Read more.
Crohn’s disease (CD) is a progressive, multifactorial, immune-mediated disease characterized by chronic inflammation of any part of the gastrointestinal (GI) tract. Pediatric patients present with a more extensive form of the disease, especially in the upper GI tract with various histopathological inflammatory patterns. Our study aims to analyze the clinical, laboratory, endoscopic, and histopathological findings in children with diagnosed CD and compare results on the initial and follow-up tests. We have included 100 children and adolescents with CD, with performed endoscopic and histopathological (HP) procedures. The results of multiple biopsies executed in these 8 years were matched and compared. We found a statistically significant frequency reduction in stool changes (65.52% to 18.18%), weight loss (35.24% to 4%), and abdominal pain (41.86% to 6.67%) as presenting symptoms. There was an improvement in all laboratory values: fecal calprotectin (1000 to 60,8 μg/g), C-reactive protein (12.2 to 1.9 mg/L), and albumin (36 to 41 g/L). On esophagogastroduodenoscopy and ileo-colonoscopy 36.59% and 64.86% patients had specific findings, respectively. A total of 32 patients had evidence of Crohn’s disease in the upper GI tract. Non-caseating granulomas were found on 9% of oesophageal, 18% of gastric, and 12% of duodenal biopsies. In the lower GI tract, we have observed a disease progression in the rectum (72.29 to 82.22%) and descending colon (73.49 to 80%). There was no registered disease progression in the upper GI tract. Our study demonstrated a significant decline in the frequency of symptoms and an improvement in laboratory values on the follow-up examinations. More than a third of our patients had specific endoscopic and HP findings in the upper GI tract, and an additional 23% had HP findings highly suggestive of CD. We demonstrated the importance of regular clinical, laboratory, endoscopic, and histopathological assessments of pediatric CD patients. Full article
(This article belongs to the Special Issue Pediatric Gastrointestinal Pathology)
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Review

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20 pages, 10317 KiB  
Review
Paediatric Congenital Enteropathies: Clinical and Histological Review
by Francesca Arienzo, Isabella Giovannoni, Antonella Diamanti, Chiara Maria Trovato, Paola De Angelis, Chiara Imondi, Rita Alaggio and Paola Francalanci
Diagnostics 2025, 15(8), 946; https://doi.org/10.3390/diagnostics15080946 - 8 Apr 2025
Viewed by 367
Abstract
Paediatric congenital enteropathies (PCEs) are a group of rare inherited diseases with a typical early onset in life. Prompt identification and treatment are crucial to avoid potentially fatal consequences. This review aims to provide a paradigmatic framework for clinical and histological identification of [...] Read more.
Paediatric congenital enteropathies (PCEs) are a group of rare inherited diseases with a typical early onset in life. Prompt identification and treatment are crucial to avoid potentially fatal consequences. This review aims to provide a paradigmatic framework for clinical and histological identification of PCEs, with an emphasis on congenital conditions involving epithelial shape, trafficking and polarity, enteroendocrine function, immunomodulatory diseases, and extremely early onset inflammatory bowel illness. A proper classification is founded on histopathological characteristics and clinical parameters (such as consanguinity, anomalies in amniotic fluid, prenatal expression or early neonatal onset, stool appearance, persistence of symptoms despite fasting, and extra-intestinal manifestations, etc.). The increasing accessibility and convenience of genetic tests has also accelerated the identification of genes related to specific phenotypes of PCEs, improving the diagnostic and care pathway. As a “niche” pathology, PCEs are susceptible to misdiagnosis due to a limited awareness of these entities, and their identification requires extensive training and specialized facilities. The aim of our review is to emphasize the importance of an integrated approach, combining clinical, histological, and molecular analysis, to achieve a definitive diagnosis and guide the treatment. Full article
(This article belongs to the Special Issue Pediatric Gastrointestinal Pathology)
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17 pages, 7245 KiB  
Review
Special Considerations in Pediatric Inflammatory Bowel Disease Pathology
by Alicia R. Andrews and Juan Putra
Diagnostics 2025, 15(7), 831; https://doi.org/10.3390/diagnostics15070831 - 25 Mar 2025
Viewed by 604
Abstract
Inflammatory bowel disease (IBD) in the pediatric population presents distinct characteristics compared to adult cases. Pathology plays a critical role in its diagnosis, and this review underscores key considerations in the pathologic evaluation of pediatric IBD. Recognizing inflammatory patterns in the upper gastrointestinal [...] Read more.
Inflammatory bowel disease (IBD) in the pediatric population presents distinct characteristics compared to adult cases. Pathology plays a critical role in its diagnosis, and this review underscores key considerations in the pathologic evaluation of pediatric IBD. Recognizing inflammatory patterns in the upper gastrointestinal tract can improve disease classification and aid in diagnosing IBD in certain scenarios, such as isolated upper gastrointestinal or small bowel involvement. Additionally, familiarity with distinctive subtypes, including IBD associated with primary sclerosing cholangitis and monogenic forms of IBD, supports early comorbidity detection, enhances patient management, and improves prognostication. Full article
(This article belongs to the Special Issue Pediatric Gastrointestinal Pathology)
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