MIRAGE syndrome is a long way to diagnosis (clinical case)

Background. DMIRAGE syndrome is an abbreviation which is derived from the capital letters of the main signs of a rare genetic disease caused by mutations in the NALCN and SAMD9 genes: myelodysplasia, infection, growth retardation, adrenal hypoplasia, genital phenotypes and enteropathy, or, in English, myelodysplasia (M), infection (I), growth restriction (R), adrenal hypoplasia (A), genital phenotypes (G), and enteropathy (E). It is an autosomal dominant disease, usually caused by a de novo mutation in genes. While there are currently no long-term outcome data, however, the mortality rate is known to be extremely high, with the majority of patients succumbing to the disease during childhood. This disease is primarily characterized by organ hypoplasia due to defective cell proliferation. The exact pathophysiologic mechanism of this syndrome has yet to be determined. Endosomal dysfunction is speculated to be a mechanism underlying the cell proliferation defects observed in this disease.
Objective. The purpose of the publication of this clinical case was to familiarize pediatric doctors with the specifics of the clinic and diagnostic tactics in relation to an extremely rare genetic syndrome.
Materials and methods. A child aged 1 year 5 months. (at the time of diagnosis) with a genetically confirmed diagnosis: MIRAGE syndrome. It has an almost complete clinical picture of this syndrome. A detailed history of the child's life, the results of clinical, instrumental and genetic examination, as well as the specifics of the selection of therapy are presented.
Results. The features of the patient's medical history and clinical picture of MIRAGE syndrome stated in the article show that it is necessary to conduct a complete genetic analysis with an unclear and atypical clinical picture, including a simultaneous damage to many body systems, in order to exclude the rarest genetic diseases.

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