MIRAGE syndrome, proposed in 2016 for the first time, is distinguished by its core aspects, including myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy. Its name was built up as an acronym for its major findings (Narumi et al. 2016). This syndrome is identified by hypoplasia of body tissues resulting from disruptions in cellular development (Ishiwa et al. 2020). Cytopenia could be present within a few days of birth, with thrombocytopenia being the most predominant, followed by pancytopenia and anemia (Cinleti et al. 2023). Skin hyperpigmentation secondary to adrenal hypoplasia could also manifest at birth (Perisa et al. 2019). Genital abnormalities comprise hypospadias, bifid scrotum, microphallus, ambiguous genitalia, and completely feminized genitalia in 46xy. Chronic diarrhea following the initiation of enteral nutrition and esophageal dysfunction are characteristics of gastrointestinal presentations (Janjua et al. 2022).

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Mirage Syndrome (MIRAGE)

  • Fatemeh Mohammadi,
  • Nima Rezaei

摘要

MIRAGE syndrome, proposed in 2016 for the first time, is distinguished by its core aspects, including myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy. Its name was built up as an acronym for its major findings (Narumi et al. 2016). This syndrome is identified by hypoplasia of body tissues resulting from disruptions in cellular development (Ishiwa et al. 2020). Cytopenia could be present within a few days of birth, with thrombocytopenia being the most predominant, followed by pancytopenia and anemia (Cinleti et al. 2023). Skin hyperpigmentation secondary to adrenal hypoplasia could also manifest at birth (Perisa et al. 2019). Genital abnormalities comprise hypospadias, bifid scrotum, microphallus, ambiguous genitalia, and completely feminized genitalia in 46xy. Chronic diarrhea following the initiation of enteral nutrition and esophageal dysfunction are characteristics of gastrointestinal presentations (Janjua et al. 2022).