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Diagnostic dilemma in infantile refractory diarrhea: a rare case of IPEX syndrome
Archana Buch1, Sargam Dhaliwal2, Mangesh Londhe3
1Professor (Pathology), Dr. D.Y.Patil Medical College, Hospital & Research Centre, Dr. D.Y.Patil Vidyapeeth, Pimpri, Pune, India.
Insights
Infantile refractory diarrhea poses diagnostic challenges due to diverse causes. This study highlights Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) as a rare, severe cause.
Area of Science:
- Pediatric Gastroenterology
- Clinical Immunology
- Genetics
Background:
- Infantile refractory diarrhea (IRD) leads to intestinal insufficiency, presenting a diagnostic challenge.
- Numerous etiologies exist, including food sensitivities, anatomical defects, transport defects, and primary epithelial disorders.
- Treatment resistance often necessitates total parenteral nutrition.
Observation:
- Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a rare cause of intractable diarrhea.
- IPEX syndrome results from FOXP3 gene mutations, causing T-regulatory cell dysfunction.
- Clinical features include diarrhea, diabetes, and dermatitis.
Findings:
- This study evaluates various causes of infantile refractory chronic diarrhea.
- A case of IPEX syndrome is presented from a specific region.
- A novel FOXP3 mutation, previously unreported, was identified in the presented case.
Implications:
- Understanding the diverse etiologies of IRD is crucial for timely diagnosis and management.
- Identifying rare genetic causes like IPEX syndrome expands the differential diagnosis for refractory diarrhea.
- The discovery of a new mutation contributes to the genetic landscape of IPEX syndrome and may inform future diagnostic approaches.
Abstract:
Infantile refractory diarrhea presents after first few days of life leading to intestinal insufficiency. It is a diagnostic challenge due to varied etiologies like food senstive enteropathy, anatomical defects and dysmotility disorders, transport and enzymatic defects, pancreatic malabsorption - cystic fibrosis (CF), primary epithelial causes like microvillus inclusion disease (MVID), tufting enteropathy and heparan sulfate deficiency, immunodeficiencies, metabolic diseases and autoimmune enteropathy. It is refractory to treatment making the patient dependent on total parenteral nutrition. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), is one of the rarest causes of intractable diarrhea. It occurs due to mutations in the FOXP3 gene, leading to dysfunction of T-regulatory cells and is characterised by diarrhoea, diabetes, and dermatitis. We aim to evaluate various causes of infantile refractory chronic diarrhea, and to present one such case of IPEX syndrome from this part of the world due to mutation not been reported in literature so far.
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