vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v23i3.2762vsp-3525Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSБолезнь Ниманна – Пика, тип А: клинический случай пациента 5 месяцевNiemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patienthttps://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNataliya V.

Журкова Наталия Вячеславовна - кандидат медицинских наук, ведущий научный сотрудник отдела орфанных болезней и профилактики инвалидизирующих заболеваний НИИ педиатрии и охраны здоровья детей НКЦ №2.

119333, Москва, ул. Фотиевой, д. 10, стр. 1

Moscow

n1972z@yandex.ruhttps://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato V.

Москва

Moscow

https://orcid.org/0000-0002-3697-4283СурковА. Н.SurkovAndrey N.

Москва

Moscow

https://orcid.org/0000-0002-4955-0121ТуртиТ. В.TurtiTatiana V.

Москва

Moscow

https://orcid.org/0000-0002-7847-3639БогдановаК. В.BogdanovaKristina V.

Москва

Moscow

https://orcid.org/0000-0001-8405-8223КоталевскаяЮ. Ю.KotalevskayaYuliya Yu.

Москва

Moscow

https://orcid.org/0000-0002-5020-1180ЗахароваЕ. Ю.ZakharovaEkaterina Yu.

Москва

Moscow

https://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Москва

Moscow

НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»РоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityRussian FederationМОНИКИ им. М.Ф. ВладимирскогоРоссияMoscow Regional Research and Clinical Institute n.a. M.F. VladimirskiyRussian FederationМГНЦ им. Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian Federation202412072024233188196Copyright © Журкова Н.В., Вашакмадзе Н.Д., Сурков А.Н., Турти Т.В., Богданова К.В., Коталевская Ю.Ю., Захарова Е.Ю., Намазова-Баранова Л.С., 20242024Журкова Н.В., Вашакмадзе Н.Д., Сурков А.Н., Турти Т.В., Богданова К.В., Коталевская Ю.Ю., Захарова Е.Ю., Намазова-Баранова Л.С.Zhurkova N.V., Vashakmadze N.V., Surkov A.N., Turti T.V., Bogdanova K.V., Kotalevskaya Y.Y., Zakharova E.Y., Namazova-Baranova L.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3525Обоснование

Обоснование. Болезнь Ниманна – Пика, тип А — редкое наследственное заболевание из группы лизосомных болезней накопления, характеризующееся ранним началом и прогредиентным течением. В связи с редкостью, быстропрогрессирующим течением, а также разработкой в перспективе методов патогенетической терапии описание клинических случаев данного заболевания является важным для ранней диагностики и решения вопроса о тактике ведения пациентов.

Описание клинического случая. Заболевание манифестировало на втором месяце жизни пациента недостаточной прибавкой массы тела, частыми пневмониями, гепатоспленомегалией, диффузной мышечной гипотонией, задержкой моторного развития, прогрессирующей неврологической симптоматикой. При лабораторном исследовании обнаружено значительное снижение активности сфингомиелиназы в крови. В результате прямого автоматического секвенирования в экзоне 2 гена SMPD1 выявлена делеция c.996del в гетерозиготном состоянии, приводящая к сдвигу рамки считывания p.F333Sfs*52 (унаследована от матери). В экзоне 3 гена SMPD1 обнаружен ранее описанный как патогенный нуклеотидный вариант c.1252C>T в гетерозиготном состоянии, приводящий к терминации трансляции p.Arg418* (унаследован от отца). При исследовании глазного дна отмечен симптом «вишневой косточки». На основании клинической картины и результатов молекулярно-генетического исследования установлен диагноз «болезнь Ниманна – Пика, тип А».

Заключение

Заключение. Обнаружение у ребенка в первые месяцы жизни задержки физического и моторного развития, диффузной мышечной гипотонии, гепатоспленомегалии, симптома «вишневой косточки» при офтальмологическом обследовании, поражения легких, рецидивирующих пневмоний, прогрессирующей неврологической симптоматики свидетельствует о наличии у пациента болезни Ниманна – Пика, тип А. Ранняя молекулярно-генетическая диагностика заболевания важна для своевременного определения тактики ведения пациента и медико-генетического консультирования его семьи.

Background

Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and adequate management due to its rarity, rapid progression, and the development of new pathogenetic therapy methods.

Clinical case description. The disease manifested on the second month of the patient’s life with poor weight gain, frequent pneumonia, hepatosplenomegaly, diffuse muscular hypotonia, delayed motor development, and progressive neurological symptoms. Laboratory testing has revealed significant decrease in sphingomyelinase activity in blood. The heterozygous deletion c.996del in exon 2 of the SMPD1 gene has been revealed via direct automatic sequencing; it leads to frameshifting p.F333Sfs*52 (inherited from mother). Moreover, the previously described pathogenic nucleotide variant c.1252C>T (heterozygous) has been revealed in exon 3 of the SMPD1 gene; it leads to translation arrest p.Arg418* (inherited from father). Cherry-red spots were diagnosed at fundospcopy. The diagnosis of Niemann-Pick disease, type А was established according to clinical signs and molecular genetic testing results.

Conclusion

Conclusion. The detection of physical and motor development delay, diffuse muscular hypotonia, hepatosplenomegaly, cherry-red spots at ophthalmological examination, lung involvement, recurrent pneumonia, and progressive neurological symptoms in a child during the first months of life indicates that this patient has Niemann-Pick disease, type А. Early molecular genetic testing is crucial for timely choosing the management approach and further genetic counselling of the family.

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