neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2020-1-3-188-196neurojour-7Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESНунан-подобный синдром с потерей анагена: три клинических случаяNoonan-like syndrome with loose anagen hair: three clinical caseshttps://orcid.org/0000-0001-6614-6115ЖурковаНаталия ВячеславовнаZhurkovaNatalia V.

Канд. мед. наук, ведущ. науч. сотр. Центра фундаментальных исследований в педиатрии, ФГАУ НМИЦ здоровья детей Минздрава России, 119991, Москва.

e-mail: n1972z@yandex.ru

MD, Ph.D., medical genetic leading researcher of the Department of basic research in рediatrics of the National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation.

e-mail: n1972z@yandex.ru

n1972z@yandex.ruhttps://orcid.org/0000-0003-4657-7879КазаковаК. А.KazakovaKlavdiya A.noemail@neicon.ruhttps://orcid.org/0000-0003-1718-8292ВаричкинаМ. А.VanichkinaMariya V.noemail@neicon.ruhttps://orcid.org/0000-0001-9798-9617КулебинаЕ. А.KulebinaElena A.noemail@neicon.ruhttps://orcid.org/0000-0002-3697-4283СурковА. Н.SurkovAndrey N.noemail@neicon.ruhttps://orcid.org/0000-0002-6316-9992КондаковаО. Б.KondakovaOlga B.noemail@neicon.ruhttps://orcid.org/0000-0002-8381-8793УвакинаЕ. В.UvakinaEvgeniya V.noemail@neicon.ruhttps://orcid.org/0000-0001-6648-2063ПушковА. А.PushkovAleksandr A.noemail@neicon.ruhttps://orcid.org/0000-0003-4885-4171СавостьяновК. В.SavostyanovKirill V.noemail@neicon.ruФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииРоссияNational Medical Research Center for Children’s Health of the Ministry of Health of the Russian FederationRussian Federation20202503202113188196Copyright © Журкова Н.В., Казакова К.А., Варичкина М.А., Кулебина Е.А., Сурков А.Н., Кондакова О.Б., Увакина Е.В., Пушков А.А., Савостьянов К.В., 20212021Журкова Н.В., Казакова К.А., Варичкина М.А., Кулебина Е.А., Сурков А.Н., Кондакова О.Б., Увакина Е.В., Пушков А.А., Савостьянов К.В.Zhurkova N.V., Kazakova K.A., Vanichkina M.V., Kulebina E.A., Surkov A.N., Kondakova O.B., Uvakina E.V., Pushkov A.A., Savostyanov K.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/7

Нунан-подобный синдром с потерей анагена - редкое наследственное заболевание, возникающее в результате мутаций в гене SHOC2. Впервые заболевание было описано в 1991 г. Основные клинические проявления заболевания - особенности фенотипа, сходные с синдромом Нунан: гипертелоризм глаз, птоз век, низко посаженные, ротированные назад ушные раковины, а также поражение кожи и волос, задержка физического развития, нарушение роста волос в фазе анагена, поражение кожи, сердечно-сосудистой системы, задержка психоречевого развития. Тип наследования - аутосомно-доминантный. Впервые в России нами описаны три клинических случая заболевания. У всех детей данной группы был Нунан-подобный фенотип, макроцефалия, широкая, короткая шея, поражение волос и кожи, врожденные пороки сердца, задержка физического развития, задержка психомоторного развития различной степени выраженности, мышечная гипотония. Один ребенок имел гипертрофическую кардиомиопатию (необструктивная форма), аневризматическое выбухание межпредсердной перегородки, незначительную дилатацию ствола легочной артерии и предсердий, аневризму верхушки левого желудочка, один - врожденный порок мочевыделительной системы. У пациентов были тонкие, редкие, медленно отрастающие волосы, смуглая кожа. У одной девочки диагностированы множественные капиллярные гемангиомы головы и туловища. У всех детей выявлен патогенный нуклеотидный вариант c.4A>G, p.S2G в гетерозиготном состоянии в гене SHOC2, описанный ранее у пациентов с данным синдромом. Дифференциальный диагноз при подозрении на Нунан-подобный синдром с потерей анагена следует проводить с синдромами Нунан, кардиофациокожным синдромом, синдромом Костелло.

Noonan-like syndrome with loose anagen hair is a rare inherited disease caused by heterozygous mutation in the SHOC2 gene. The disease was first described in 1991. The main clinical manifestations of the disease are phenotype features similar to those observed in Noonan syndrome: orbital hypertelorism, eyelid ptosis, low-set, and posteriorly rotated auricles, as well as skin and hair lesions, development delay, loose anagen hair, cardiovascular disorders, and mental retardation. It has an autosomal dominant mode of inheritance. We have described three clinical cases of this disease for the first time in Russia. All children in this group had a Noonan-like phenotype, macrocephaly, wide, short neck, hair and skin lesions, congenital heart disease, development delay of different severity, and hypotonia. One child had hypertrophic cardiomyopathy, nonobstructive form, aneurysmal dilatation of interatrial septum, minor dilation of the pulmonary artery and atria, apical aneurysm other cases showed a congenital defect of the urinary system. These patients have thin, sparse, slowly growing hair, dark skin. One girl was diagnosed with multiple capillary haemangiomas on her head and trunk. Pathogenic nucleotide variant c.4A>G, p.S2G in heterozygous state of the SHOC2 gene was revealed in all our patients. The same was described previously in patients with this syndrome. Differential diagnosis at suspicion on Noonan-like syndrome with loose anagen hair should be carried out with Noonan syndrome, Cardiofaciocutaneous syndrome (CFC), Costello syndrome.

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