rospedРоссийский педиатрический журнал имени М.Я. СтуденикинаM.Ya. Studenikin Russian Pediatric JournalФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/1560-9561-2022-25-3-212-216bdtumlrosped-333Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEНетипичный случай синдрома Эдвардса в практике педиатраAn atypical case of Edwards syndrome in a pediatrician’s practiceБабуловаАмина СоциаловнаBabulovaAlina S.

Резидент 2-го года по специальности «Неонатология» каф. «Педиатрия и неонатология» НАО МУК РК.

e-mail: babulova@qmu.kz

babulova@qmu.kzУтегеновАсет АманжоловичUtegenovAset A.

Резидент 2-го года по специальности «Неонатология» каф. «Педиатрия и неонатология» НАО МУК.

e-mail: utegenov@qmu.kz

utegenov@qmu.kzБулегеноваДаяна БахытжановнаBulegenovaDayana B.

Резидент 2-го года по специальности «Неонатология» каф. «Педиатрия и неонатология» НАО МУК.

e-mail: bulegenova@qmu.kz

bulegenova@qmu.kzМедетбековаАмина АблайхановнаMedetbekovaAmina A.

Резидент 2-го года по специальности «Неонатология» каф. «Педиатрия и неонатология» НАО МУК.

e-mail: a.medetbekova@qmu.kz

a.medetbekova@qmu.kzhttps://orcid.org/0000-0002-4697-5335КизатоваСауле ТанзиловнаKizatovaSaule T.

Проф. каф. педиатрии и неонатологии НАО «Медицинский университет Караганды».

e-mail: kizatova@qmu.kz

Prof. of the Department of pediatrics and neonatology, Karaganda Medical University, Karaganda, 100008, Republic of Kazakhstan.

e-mail: kizatova@qmu.kz

kizatova@qmu.kzНекоммерческое акционерное общество «Медицинский университет Караганды»Karaganda Medical University202227092023253212216Copyright © Бабулова А.С., Утегенов А.А., Булегенова Д.Б., Медетбекова А.А., Кизатова С.Т., 20232023Бабулова А.С., Утегенов А.А., Булегенова Д.Б., Медетбекова А.А., Кизатова С.Т.Babulova A.S., Utegenov A.A., Bulegenova D.B., Medetbekova A.A., Kizatova S.T.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.rosped.ru/jour/article/view/333Обоснование

Обоснование. Для синдрома Эдвардса характерны множественные врождённые пороки развития и своеобразные фенотипические признаки, в том числе нарушения костно-мышечной системы. Наличие фенотипических признаков позволяет улучшить раннюю диагностику почти у 90% новорождённых с данной патологией, для уточнения диагноза необходимо проведение генетического исследования. Целью описания клинического случая явилось нетипичное течение синдрома Эдвардса.

Описание клинического случая. Девочка А. наблюдалась с рождения с синдромом Эдвардса, который был диагностирован при пренатальном скрининге на сроке гестации 16/3 нед у плода за счёт возрастного фактора супруги (42 года). Постнатально у новорождённой были выявлены отклонения от известных проявлений фенотипа синдрома Эдвардса, что вызвало затруднения при постановке диагноза. После генетического исследования в течение 1 мес жизни у больной был выявлен синдром Эдвардса, трисомная форма (Q91.0), приведшие к смерти ребёнка в возрасте 2 мес. Сопоставление клинического и патологоанатомического диагнозов позволило представить полноту клинических проявлений заболевания. Представленный клинический пример демонстрирует важную роль пре- и неонатального скрининга в ранней диагностике хромосомных заболеваний и показывает значимость непрерывного медикаментозного сопровождения беременности и своевременной коррекции стрессового расстройства родителей. Нетипичное проявление хромосомного заболевания не отрицает его наличия, для уточнения диагноза необходимо проведение генетического исследования.

Участие авторов

Участие авторов:Кизатова С.Т., Медетбекова А.А. — концепция и дизайн исследования;Бабулова А.С., Утегенов А.А., Медетбекова А.А. — сбор данных;Бабулова А.С., Булегенова Д.Б. — написание текста;Кизатова С.Т. — редактирование текста.Все соавторы — утверждение окончательного варианта статьи, ответственность за целостность всех её частей. 

Финансирование

Финансирование. Исследование не имело финансовой поддержки.

Конфликт интересов

Конфликт интересов. Авторы заявляют об отсутствии конфликта интересов. 

Поступила 19

Поступила 19.04.2022Принята к печати 10.06.2022Опубликована 07.05.2022

Introduction

Introduction. Edwards syndrome is characterized by multiple congenital malformations and peculiar phenotypic signs. The presence of important phenotypic signs, including manifestations of the musculoskeletal system in almost 90% of newborns with this pathology allows improving the chances of early diagnosis of chromosomal diseases, while their absence cannot deny the presence of this disease. A genetic examination is necessary to clarify the diagnosis. The purpose of the description of the clinical case was an atypical course of a previously known disease.

Case description

Case description. There is presented a description of a clinical case of a newborn with Edwards syndrome, which was observed from birth. Owing to the introduction into clinical practice of the method of prenatal (ultrasound and biochemical) screening at the time of 16/3 weeks, an increased genetic risk for the development of chromosomal abnormalities and /or congenital malformations in the fetus was revealed according to the age factor of the mother (42 years). Postnatally, the birth of a newborn with a non-classical manifestation of the phenotype of Edwards syndrome caused difficulties in making a diagnosis. The genetic research made it possible to establish trisomy 18, meiotic non-divergence, Edwards syndrome, trisomal form (Q91.0) in the infant during the first month who died at the age of 2 months. Comparison of clinical and pathoanatomical diagnosis allowed presenting the completeness of clinical manifestations of this disease.

The presented clinical example demonstrates the important role of pre- and neonatal screening in the early diagnosis of chromosomal diseases and emphasizes the importance of continuous medication support, including work with parental stress and parental support. An atypical manifestation of a chromosomal disease does not deny its presence and a genetic study is necessary to clarify the diagnosis.

Сontribution

Сontribution:Kizatova S.T., Medetbekova A.A. — concept and design of the study;Babulova A.S., Utegenov A.A., Medetbekova A.A. — data collection;Babulova A.S., Bulegenova D.B. — text writing;Kizatova S.T. — text editing.All co-authors — approval of the final version of the article, responsibility for the integrity of all its parts.

Acknowledgment

Acknowledgment. The study had no sponsorship.

Conflict of interest

Conflict of interest. The authors declare no conflict of interest.

Received

Received: April 19, 2022Accepted: June 10, 2022Published: May 07, 2022

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