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”perinatology-213Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL OBSERVATIONSАллельный вариант врожденной миопатии СалихаAn allelic variant of congenital Salih myopathyБеленикинМ. С.BelenikinM. S.

к.х.н., в.н.с.

ЖилинаС. С.ZhilinaS. S.

к.м.н., в.н.с.

БариновА. А.BarinovA. A.

биолог

ШоринаМ. Ю.ShоrinaM. Yu.

врач

БрюхановаН. О.BryukhanovaN. O.

мл.н.с.

МагомедоваР. М.MagomedovaR. M.

асп.

МещеряковаТ. И.MeshcheryakovaT. I.

врач-генетик

ПетринА. Н.PetrinA. N.

д.м.н., врач-генетик

ДемидоваИ. А.DemidovaI. A.

к.м.н., зав. лабораторией молекулярной биологии

ПрокопьевГ. Г.ProkopievG. G.

к.м.н., вед.научн.сотр.

МутовинГ. Р.MutovinG. R.

д.м.н., проф.

ПритыкоА. Г.PritykoA. G.

д.м.н., директор

ФГБУ «Научно-практический центр медицинской помощи детям с пороками развития черепно-лицевой области и врожденными заболеваниями нервной системы», МоскваРоссияResearch and Practical Center of Medical Care for Children with Craniofacial Anomalies and Congenital Diseases of the Nervous System, MoscowRussian FederationГАУЗ «Московская городская онкологическая больница №62»РоссияMoscow Cancer Hospital Sixty-TwoRussian FederationГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова», МоскваРоссияN.I. Pirogov Russian National Research Medical University, MoscowRussian Federation2015150320166038993Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “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/213

Статья посвящена описанию этапов и проблем диагностики врожденной миопатии с ранними дыхательными нарушениями. В рамках дифференциального диагноза рассмотрены врожденные миопатии, при которых встречается раннее поражение сердца. Поскольку течение заболевания у наблюдавшейся пациентки отличалось от таких нозологических форм и манифестировало не только мышечной слабостью, но и ранними нарушениями дыхания, по клинической картине заболевания и результатам гистологического исследования мышц нам не удалось определиться с нозологической принадлежностью и было решено провести экзомное секвенирование. Молекулярно-генетическое исследование позволило найти гетерозиготные мутации в гене титина (TTN). Полученные данные свидетельствуют о врожденной проксимальной миопатии с ранней дыхательной недостаточностью, являющейся аллельным вариантом миопатии Салиха. Этот случай представляет собой первое и пока единственное описание данного заболевания в России. 

The paper describes the steps and problems of diagnosing congenital myopathy with early respiratory disorders. While differentially diagnosing, the authors consider congenital myopathies, in which early cardiac involvement is encountered. Since the course of the disease in an observed female patient differed from that of such nosological entities and appeared as not only muscle weakness, but also as early respiratory disorders, we could not identify what nosological entity the disease belonged to in view of its clinical presentation and the results of muscle histological examination and we decided to perform exome sequencing. Molecular genetic testing could find heterozygous mutations in the titin (TTN) gene. The findings are suggestive of congenital proximal myopathy with early respiratory failure, which is an allelic variant of Salih myopathy. This case is the first and so far only description of this disease in Russia. 

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