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”10.21508/1027-4065-2023-68-6-105-111perinatology-1913Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESВрожденный псевдоартроз костей голени и расстройство аутистического спектра у пациента с нейрофиброматозом 1-го типаCongenital pseudarthrosis of the leg bones and autistic spectrum disorder in a patient with neurofibromatosis type 1https://orcid.org/0000-0002-8582-592XГамироваР. Г.GamirovaR. G.

Гамирова Римма Габдульбаровна — к.м.н., доц., зав. кафедрой неврологии с курсами психиатрии, клинической психологии и медицинской генетики, ведущий научный сотрудник научно-исследовательской лаборатории «Нейрокогнитивные исследования», зав. отделением видео-ЭЭГ-мониторинга Научно-клинического центра прецизионной и регенеративной медицины

420008 Казань, ул. Кремлевская, д. 18

Kazan

r-gamirov@mail.ruЗабироваК. Р.ZabirovaK. R.

Забирова Карина Ришатовна — студент VI курса направления «Лечебное дело» Института фундаментальной медицины и биологии

420008 Казань, ул. Кремлевская, д. 18

Kazan

https://orcid.org/0000-0001-9986-3217СафинаА. Р.SafinaA. R.

Сафина Айсылу Радиковна — асс. кафедры неврологии с курсами психиатрии, клинической психологии и медицинской генетики

420008 Казань, ул. Кремлевская, д. 18

Kazan

https://orcid.org/0000-0002-3859-5543ГоробецЕ. А.GorobetsE. A.

Горобец Елена Анатольевна — к.филол.н., доц., зав. кафедрой прикладной и экспериментальной лингвистики, рук. научно-исследовательской лаборатории «Нейрокогнитивные исследования», зав. Центром патологии речи Научно-клинического центра прецизионной и регенеративной медицины

420008 Казань, ул. Кремлевская, д. 18

Kazan

https://orcid.org/0000-0002-4147-2309ВолгинаС. Я.VolginaS. Ya.

Волгина Светлана Яковлевна — д.м.н., проф. кафедры госпитальной педиатрии

420012 Казань, ул. Бутлерова, д. 49

Kazan

ФГАОУ ВО «Казанский (Приволжский) федеральный университет»РоссияKazan (Volga Region) Federal UniversityRussian FederationФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииРоссияKazan State Medical UniversityRussian Federation202313012024686105111Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20242024Ltd. “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/1913

Представлен анализ патогенеза заболевания, механизма поражения центральной нервной системы, проанализированы общая клиническая картина нейрофиброматоза 1-го типа, его диагностические критерии, описана специфика когнитивного развития при данном заболевании с упором на нарушения поведения и расстройства аутистического спектра. Представлено описание клинического случая нейрофиброматоза 1-го типа (у мальчика 6 лет 10 мес), в котором, наряду с пятнами кофейного цвета на коже, подкожными фибромами, одним из первых симптомов заболевания был также врожденный ложный сустав костей левой голени. Отсутствие речевого развития и расстройство аутистического спектра были ключевыми проблемами при дальнейшем развитии ребенка.

The article presents an analysis of the pathogenesis of neurofibromatosis type 1, the mechanism of damage to the central nervous system. It analyzes the general clinical symptoms of neurofibromatosis type 1, its diagnostic criteria, describes the specifics of cognitive development in this disease with an emphasis on behavioral and autism spectrum disorders. The authors describe a clinical case of neurofibromatosis type 1 (a boy, 6 years and 10 months), in which, along with coffee-colored skin spots, subcutaneous fibromas, one of the first symptoms of the disease was also a congenital false joint of the bones of the left leg. Absence of speech development and autism spectrum disorders are key problems in the cognitive status of the child.

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