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

Frontiers in Endocrinology

Joyce Ching Mei Lam¹  Aravind Venkatesh Sreedharan²  Xinyi Chin²  Christopher Wen Wei Ho³  Rashida Farhad Vasanwala⁴  Teck Wah Ting⁵  Heming Wei⁶  Jyn Ling Kuan⁷  Ene Choo Tan⁸ 

[1] Nutrition Service, KK Women’s and Children’s Hospital, Singapore, Singapore;Department of Paediatric Medicine, Endocrinology Service, KK Women’s and Children’s Hospital, Singapore, Singapore;;Department of Paediatric Medicine, Gastroenterology Hepatology &Department of Paediatric Medicine, Genetics Service, KK Women’s and Children’s Hospital, Singapore, Singapore;Department of Paediatric Subspecialties, Haematology/Oncology Service, KK Women’s and Children’s Hospital, Singapore, Singapore;KK Research Centre, KK Women’s and Children’s Hospital, Singapore, Singapore;SingHealth Duke-NUS Institute of Precision Medicine (PRISM), Singapore, Singapore;SingHealth Duke-NUS Paediatric Academic Clinical Programme, Singapore, Singapore;

关键词: MIRAGE;    primary adrenal insufficiency;    adrenal hypoplasia;    intussesception;    SAMD9/SAMD9 mutations;   

DOI  :  10.3389/fendo.2021.742495

来源: DOAJ

【 摘 要 】

IntroductionPrimary 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 PresentationA 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.ConclusionIn 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.

【 授权许可】

Unknown