Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children59910.24287/1726-1708-2022-21-1-136-142SCHOOL OF IMMUNOLOGY – EXPERT OPINIONШКОЛА ИММУНОЛОГА – МНЕНИЕ ЭКСПЕРТАA case of medulloblastoma in a patient with hereditary angioedema with C1 inhibitor deficiencyСлучай развития медуллобластомы у пациента с наследственным ангиоотеком с дефицитом С1-ингибитораhttps://orcid.org/0000-0002-2427-1417ViktorovaE. A.ВиктороваЕ. А.
Russian Federation

Ekaterina А. Viktorova, an allergist-immunologist, Head of Admission Department, Deputy Chief Physician for Clinical and Expert Work

1 Samory Mashela St., Moscow 117997 

Викторова Екатерина Андреевна, врач-аллерголог-иммунолог, заведующая приемным отделением, заместитель главного врача по клинико-экспертной работе

117997, Москва, ул. Саморы Машела, 1

Ekaterina.Viktorova@fccho-moscow.ruhttps://orcid.org/0000-0002-9846-2793SalnikovaE. A.СальниковаЕ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-7750-5216PapushaL. I.ПапушаЛ. И.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-7945-2565ShchukinV. V.ЩукинВ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-2537-6157NechesnyukA. V.НечеснюкА. В.
Russian Federation

Moscow

Москва

GornostaevV. V.ГорностаевВ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-1669-8621KuzmenkoN. B.КузьменкоН. Б.
Russian Federation

Moscow

Москва

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России300320222111361423003202230032022Copyright ©; 2022, «D. Rogachev NMRCPHOI»Copyright ©; 2022, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2022«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/599

Hereditary angioedema (HAE) is a disease characterized by edema of various localizations. Though classified as primary immunodeficiencz the disease lacks manifestations characteristic for primary/secondary immunodeficiencies. Medulloblastoma is one of the most frequent central nervous system tumors in children. The presence of a hereditary orphan disease (HAE) does not contradict the development of oncological process of any localization. The combination of two different diseases in a particular patient requires special approaches to the treatment of each of them. In this article we describe a clinical case of medulloblastoma in a patient with HAE. We also describe our approach to preventive therapy in a patient with a genetically confirmed HAE with C1 inhibitor deficiency before the manifestation of clinical symptoms which was implemented in order to apply program complex therapy of medulloblastoma in his entirety, including surgical procedures and radiation therapy, under general anesthesia. The patient’s parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.

Наследственный ангионевротический отек (НАО) – заболевание, характеризующееся отеками различных локализаций и относящееся к первичным иммунодефицитам без проявлений, характерных для первичных/вторичных иммунодефицитов. Медуллобластома – одна из самых распространенных опухолей центральной нервной системы у детей. Наличие наследственно обусловленного орфанного заболевания (НАО) не противоречит развитию онкологического процесса любой локализации, в том числе у пациентов детского возраста. Сочетание двух различных нозологических форм у конкретного пациента диктует рассмотрение особых подходов к терапии каждого из них. В данной статье мы описываем собственный опыт наблюдения клинического случая развития медуллобластомы у пациента с НАО, а также представляем опыт подхода к профилактической терапии у больного с генетически подтвержденным НАО с дефицитом С1-ингибитора до манифестации клинических симптомов в целях возможности применения необходимой программной комплексной терапии в отношении медуллобластомы в полном объеме, в том числе хирургических манипуляций и лучевой терапии с использованием анестезиологических пособий. Родители пациента дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.

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