perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2022-67-5-220-224perinatology-1729Research ArticleК XVIII РОССИЙСКОМУ КОНГРЕССУ «ПЕДИАТРИЯ И ДЕТСКАЯ ХИРУРГИЯ В ПРИВОЛЖСКОМ ФЕДЕРАЛЬНОМ ОКРУГЕ». В ПОМОЩЬ ПРАКТИЧЕСКОМУ ВРАЧУСиндром MEHMO: сложность верификации диагнозаMEHMO syndrome: complexity of verifying the diagnosishttps://orcid.org/0000-0002-2783-5759ШайдуллинаМ. Р.ShaydullinaM. R.

к.м.н., зав. отделением эндокринологии;

доц. кафедры эндокринологии, 

 420011 Казань, ул. Оренбургский тракт, д. 140

Kazan

zizi97@mail.ruКарповаО. А.KarpovaO. A.

зав. отделением пульмонологии,

420011 Казань, ул. Оренбургский тракт, д. 140

Kazan

https://orcid.org/0000-0001-9975-3632ШакироваА. Р.ShakirovaA. R.

зав. отделением иммунологии и гематологии,

420011 Казань, ул. Оренбургский тракт, д. 140

Kazan

https://orcid.org/0000-0003-0724-9004ДеминаН. А.DeminaN. A.

врач-генетик,

115478 Москва, Москворечье ул., д. 1

Moscow

ГАУЗ «Детская республиканская клиническая больница» Минздрава Республики Татарстан; ФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииРоссияRepublican Сhildren's Clinical Hospital; Kazan State Medical UniversityRussian FederationГАУЗ «Детская республиканская клиническая больница» Минздрава Республики ТатарстанРоссияRepublican Сhildren's Clinical HospitalRussian FederationФГБНУ «Медико-генетический научный центр им. академика Н.П. Бочкова»РоссияBochkov Research Center of Medical GeneticsRussian Federation202220112022675220224Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20222022Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1729

Синдром MEHMO (OMIM: 300148; ORPHA: 85282) — заболевание, проявляющееся чаще всего задержкой интеллектуального развития, эпилепсией, гипогонадизмом, микроцефалией и ожирением. Патология связана с мутациями в гене EIF2S3, расположенном на коротком плече X-хромосомы и приводит, как правило, к тяжелой инвалидизации пациентов. В статье представлено клиническое наблюдение течения данной синдромальной патологии у двух мальчиков-кузенов с микроцефалией, манифестировавшей комплексом патогенетически не связанных эндокринопатий (гиперинсулинемическая гипогликемия, множественный дефицит гормонов аденогипофиза) и сопровождавшейся грубыми неврологическими отклонениями (эпилепсия, спастический тетрапарез, атрофия зрительных нервов). Описаны сложности диагностического процесса, обусловленные, главным образом редкостью данного синдрома. 

MEHMO syndrome (OMIM: 300148; ORPHA: 85282) is a disease appears by mental retardation, epilepsy seizures, hypogonadism, microcephaly, and obesity. Pathology is associated with mutations in the EIF2S3 gene located on the X chromosome and leads usually to serious disability of patients. The article presents a clinical observation of the case of the syndrome in two male cousins with microcephaly, manifested by a complex of endocrinopathies (hyperinsulinemic hypoglycemia, multiple adenohypophysis hormone deficiency) and accompanied by severe neurological abnormalities (epilepsy, spastic tetraparesis, optic nerve atrophy). The complexity of the diagnostic due to the rarity of this syndrome, is described. 

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The authors declare that there are no conflicts of interest present.