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

doi:10.3969/j.issn.1674-8115.2022.11.019

Abstract

Abstract:

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

CLC Number:

R722.11

LI Yahui, WANG Yiwen, XIE Lijuan. A case of neonatal MIRAGE syndrome caused by novel mutation of SAMD9 gene[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022, 42(11): 1644-1648.

Figures/Tables 2

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References 20

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