Related Experiment Video
Updated: Oct 27, 2025
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Congenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis
Mohsin Raj Mantoo1, Rohan Malik2, Prasenjit Das1
1Departments of Pediatrics and Pathology, All India Institute of Medical Sciences, New Delhi 110029, India.
Insights
Congenital diarrhea and enteropathies (CODEs) are rare genetic disorders. Early diagnosis and management using genetic testing and a stepwise approach are crucial for improving outcomes in affected infants.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Molecular Medicine
Background:
- Congenital diarrhea and enteropathies (CODEs) are rare monogenic disorders presenting with intractable diarrhea in infancy.
- Accurate diagnosis and effective management of CODEs remain challenging.
- Advances in next-generation genetic testing offer improved classification and therapeutic strategies.
Purpose of the Study:
- To present the clinical experience with four cases of CODEs.
- To highlight the utility of genetic testing in diagnosing these conditions.
- To propose a diagnostic and management approach for CODEs in the Indian context.
Main Methods:
- Case series of four infants with CODEs.
- Clinical presentation, age at onset, and outcomes were recorded.
- Histopathological analysis of duodenal and rectal endoscopic biopsies (light and electron microscopy).
- Genetic evaluation to identify causative mutations.
Main Results:
- Diagnoses included congenital tufting enteropathy (CTE) in two cases, microvillous inclusion disease (MVID) in one, and trichohepatoenteric syndrome (THES) in one.
- Age at onset ranged from 3 to 38 days.
- Histopathology confirmed diagnoses, and genetic testing identified causative mutations in three cases.
- Two children (CTE and MVID) survived at follow-up.
Conclusions:
- Genetic testing is pivotal for accurate diagnosis and classification of CODEs.
- A stepwise diagnostic and management strategy is recommended for CODEs.
- Early intervention and tailored management can improve outcomes for infants with CODEs.
Abstract:
Congenital diarrhea and enteropathies (CODEs) are monogenic disorders causing early onset of intractable diarrhea. Their diagnosis and management are challenging. With the availability of commercial next generation genetic testing, we are now better able to classify and manage these disorders. The authors present their experience with 4 cases. Two patients had congenital tufting enteropathy (CTE) and 1 case each of microvillous inclusion disease (MVID) and trichohepatoenteric syndrome (THES). Age at onset varied from 3 to 38 d of life. Light microscopy and electron microscopy of duodenal and rectal endoscopic biopsies were consistent with the diagnosis. Genetic evaluation was possible in 3 cases indicating causative mutations. Two children (CTE and MVID) were alive at last follow-up. The authors suggest a stepwise approach to the diagnosis and management of these disorders in the Indian context.
More Related Videos
Related Concept Videos
01:25Assessment of the Rectum and Anus
Rectal Inspection
Begin by inspecting the perianal and anal areas for color, texture, rashes,...
01:30Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
01:18Drugs Affecting GI Tract Motility: Antimicrobials as Antidiarrheal Agents
01:30Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
01:17Drugs for Treatment of Diarrhea-Predominant IBS
Two specific drugs used in the treatment are alosetron (Lotronex) and eluxadoline (Viberzi). Alosetron, a 5-HT3 antagonist, works by slowing the movement of stools in the gut, reducing bowel...
01:17Chronic Bowel Disorders: Introduction
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...