Journal of Shanghai Jiao Tong University (Medical Science) ›› 2022, Vol. 42 ›› Issue (11): 1644-1648.doi: 10.3969/j.issn.1674-8115.2022.11.019

• Case report • Previous Articles    

A case of neonatal MIRAGE syndrome caused by novel mutation of SAMD9 gene

LI Yahui(), WANG Yiwen, XIE Lijuan()   

  1. Department of Neonatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China, 200092
  • Received:2022-05-12 Accepted:2022-10-14 Online:2022-11-28 Published:2023-01-04
  • Contact: XIE Lijuan;


A female newborn, delivered by cesarean section for oligohydramnios and severe intrauterine growth retardation at gestational age of 30 weeks. She presented progressive severe respiratory distress and symptoms of adrenal insufficiency, such as hyperpigmentation, hypotension, disorder of electrolyte and glucose metabolism soon after birth. The newborn died at the fifth day because of multiple organ failure. Gene analysis showed that there was heterozygous variant in the SAMD9 gene of the newborn (c.4598G>A, p.Arg1533Gln) and she was diagnosed with MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy). MIRAGE syndrome is usually complex and critical with multisystem disorder. Early identification with genetic testing can help diagnosis and guide treatment, which can improve the prognosis.

Key words: MIRAGE syndrome, SAMD9 gene, Adrenal insufficiency, Newborn

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