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MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report

INTRODUCTION: Primary adrenal insufficiency (PAI) presenting in the neonatal period can be life threatening and requires early recognition, diagnosis, and management. PAI due to adrenal hypoplasia (syndromic/non-syndromic) is a rare disorder. MIRAGE is a recently described syndrome with PAI and mult...

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Autores principales: Chin, Xinyi, Sreedharan, Aravind Venkatesh, Tan, Ene Choo, Wei, Heming, Kuan, Jyn Ling, Ho, Christopher Wen Wei, Lam, Joyce Ching Mei, Ting, Teck Wah, Vasanwala, Rashida Farhad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8511671/
https://www.ncbi.nlm.nih.gov/pubmed/34659124
http://dx.doi.org/10.3389/fendo.2021.742495
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author Chin, Xinyi
Sreedharan, Aravind Venkatesh
Tan, Ene Choo
Wei, Heming
Kuan, Jyn Ling
Ho, Christopher Wen Wei
Lam, Joyce Ching Mei
Ting, Teck Wah
Vasanwala, Rashida Farhad
author_facet Chin, Xinyi
Sreedharan, Aravind Venkatesh
Tan, Ene Choo
Wei, Heming
Kuan, Jyn Ling
Ho, Christopher Wen Wei
Lam, Joyce Ching Mei
Ting, Teck Wah
Vasanwala, Rashida Farhad
author_sort Chin, Xinyi
collection PubMed
description INTRODUCTION: Primary adrenal insufficiency (PAI) presenting in the neonatal period can be life threatening and requires early recognition, diagnosis, and management. PAI due to adrenal hypoplasia (syndromic/non-syndromic) is a rare disorder. MIRAGE is a recently described syndrome with PAI and multisystem involvement. CASE PRESENTATION: A preterm female neonate presenting with PAI and persistent severe thrombocytopenia was diagnosed to have MIRAGE syndrome due to a de novo pathogenic variant c.3406G>C (p. Glu1136Gln) in the SAMD9 gene. In the first year of life, she had recurrent respiratory and gastrointestinal infection causing failure to thrive. At 17 months, she suffered recurrent intussusception requiring treatment with parenteral nutrition and high-dose steroids. Subsequently, she established oral feeds with hydrolysed formula and demonstrated good weight gain. CONCLUSION: In neonates presenting with PAI and associated multisystem involvement, a thoughtful approach and genetic testing is valuable in discerning an etiological diagnosis. This case of MIRAGE adds to the spectrum of reported cases and is the first to report on recurrent intussusception and its management with high-dose steroids.
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spelling pubmed-85116712021-10-14 MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report Chin, Xinyi Sreedharan, Aravind Venkatesh Tan, Ene Choo Wei, Heming Kuan, Jyn Ling Ho, Christopher Wen Wei Lam, Joyce Ching Mei Ting, Teck Wah Vasanwala, Rashida Farhad Front Endocrinol (Lausanne) Endocrinology INTRODUCTION: Primary adrenal insufficiency (PAI) presenting in the neonatal period can be life threatening and requires early recognition, diagnosis, and management. PAI due to adrenal hypoplasia (syndromic/non-syndromic) is a rare disorder. MIRAGE is a recently described syndrome with PAI and multisystem involvement. CASE PRESENTATION: A preterm female neonate presenting with PAI and persistent severe thrombocytopenia was diagnosed to have MIRAGE syndrome due to a de novo pathogenic variant c.3406G>C (p. Glu1136Gln) in the SAMD9 gene. In the first year of life, she had recurrent respiratory and gastrointestinal infection causing failure to thrive. At 17 months, she suffered recurrent intussusception requiring treatment with parenteral nutrition and high-dose steroids. Subsequently, she established oral feeds with hydrolysed formula and demonstrated good weight gain. CONCLUSION: In neonates presenting with PAI and associated multisystem involvement, a thoughtful approach and genetic testing is valuable in discerning an etiological diagnosis. This case of MIRAGE adds to the spectrum of reported cases and is the first to report on recurrent intussusception and its management with high-dose steroids. Frontiers Media S.A. 2021-09-29 /pmc/articles/PMC8511671/ /pubmed/34659124 http://dx.doi.org/10.3389/fendo.2021.742495 Text en Copyright © 2021 Chin, Sreedharan, Tan, Wei, Kuan, Ho, Lam, Ting and Vasanwala https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Chin, Xinyi
Sreedharan, Aravind Venkatesh
Tan, Ene Choo
Wei, Heming
Kuan, Jyn Ling
Ho, Christopher Wen Wei
Lam, Joyce Ching Mei
Ting, Teck Wah
Vasanwala, Rashida Farhad
MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report
title MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report
title_full MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report
title_fullStr MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report
title_full_unstemmed MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report
title_short MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report
title_sort mirage syndrome caused by a de novo c.3406g>c (p. glu1136gln) mutation in the samd9 gene presenting with neonatal adrenal insufficiency and recurrent intussusception: a case report
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8511671/
https://www.ncbi.nlm.nih.gov/pubmed/34659124
http://dx.doi.org/10.3389/fendo.2021.742495
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