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MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report
Patient: MaLe, newborn Final Diagnosis: MIRAGE syndrome Symptoms: Adrenal insufficiency • ambiguous genitalia • colonic dilatation • dry eyes • enteropathy • hypothyroidism Medication: — Clinical Procedure: — Specialty: Endocrinology and Metabolic • Gastroenterology and Hepatology • Genetics • Pedia...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411815/ https://www.ncbi.nlm.nih.gov/pubmed/35994417 http://dx.doi.org/10.12659/AJCR.937057 |
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author | Janjua, Dalwinder Shankar, Shiva AlMaazmi, Munira Jadhav, Devendrasing Vijaysing |
author_facet | Janjua, Dalwinder Shankar, Shiva AlMaazmi, Munira Jadhav, Devendrasing Vijaysing |
author_sort | Janjua, Dalwinder |
collection | PubMed |
description | Patient: MaLe, newborn Final Diagnosis: MIRAGE syndrome Symptoms: Adrenal insufficiency • ambiguous genitalia • colonic dilatation • dry eyes • enteropathy • hypothyroidism Medication: — Clinical Procedure: — Specialty: Endocrinology and Metabolic • Gastroenterology and Hepatology • Genetics • Pediatrics and Neonatology OBJECTIVE: Rare disease BACKGROUND: Major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome is a rare genetic condition caused by a gain-of-function mutation in the SAMD9 gene. It acts as a growth repressor expressed in the endothelial cells. Pathogenic variants in the SAMD9 gene lead to profound growth-restricting activity intrinsic to the protein, which further reduces cellular proliferation and instigates this growth-limiting condition. Gastrointestinal features include chronic diarrhea, severe diaper rash, and colonic dilatation. Until now, there has been no description of exocrine pancreatic insufficiency as a possible cause of enteropathy in MIRAGE syndrome. CASE REPORT: We report a case of MIRAGE syndrome affecting multiple systems in an infant who had severe enteropathy which responded well to porcine-derived pancreatic enzyme supplements despite normal pancreatic fecal elastase level. The infant is being followed up by multidisciplinary teams in our outpatient department. CONCLUSIONS: Porcine-derived pancreatic enzyme is beneficial in enteropathy due to MIRAGE syndrome and is worth considering. |
format | Online Article Text |
id | pubmed-9411815 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-94118152022-09-26 MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report Janjua, Dalwinder Shankar, Shiva AlMaazmi, Munira Jadhav, Devendrasing Vijaysing Am J Case Rep Articles Patient: MaLe, newborn Final Diagnosis: MIRAGE syndrome Symptoms: Adrenal insufficiency • ambiguous genitalia • colonic dilatation • dry eyes • enteropathy • hypothyroidism Medication: — Clinical Procedure: — Specialty: Endocrinology and Metabolic • Gastroenterology and Hepatology • Genetics • Pediatrics and Neonatology OBJECTIVE: Rare disease BACKGROUND: Major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome is a rare genetic condition caused by a gain-of-function mutation in the SAMD9 gene. It acts as a growth repressor expressed in the endothelial cells. Pathogenic variants in the SAMD9 gene lead to profound growth-restricting activity intrinsic to the protein, which further reduces cellular proliferation and instigates this growth-limiting condition. Gastrointestinal features include chronic diarrhea, severe diaper rash, and colonic dilatation. Until now, there has been no description of exocrine pancreatic insufficiency as a possible cause of enteropathy in MIRAGE syndrome. CASE REPORT: We report a case of MIRAGE syndrome affecting multiple systems in an infant who had severe enteropathy which responded well to porcine-derived pancreatic enzyme supplements despite normal pancreatic fecal elastase level. The infant is being followed up by multidisciplinary teams in our outpatient department. CONCLUSIONS: Porcine-derived pancreatic enzyme is beneficial in enteropathy due to MIRAGE syndrome and is worth considering. International Scientific Literature, Inc. 2022-08-22 /pmc/articles/PMC9411815/ /pubmed/35994417 http://dx.doi.org/10.12659/AJCR.937057 Text en © Am J Case Rep, 2022 https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ) |
spellingShingle | Articles Janjua, Dalwinder Shankar, Shiva AlMaazmi, Munira Jadhav, Devendrasing Vijaysing MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report |
title | MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report |
title_full | MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report |
title_fullStr | MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report |
title_full_unstemmed | MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report |
title_short | MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report |
title_sort | mirage syndrome enteropathy responding to pancrelipase despite normal pancreatic fecal elastase: a case report |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411815/ https://www.ncbi.nlm.nih.gov/pubmed/35994417 http://dx.doi.org/10.12659/AJCR.937057 |
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