A case of medulloblastoma in a patient with hereditary angioedema with C1 inhibitor deficiency

E. A. Viktorova; Викторова Е. А.; E. A. Salnikova; Сальникова Е. А.; L. I. Papusha; Папуша Л. И.; V. V. Shchukin; Щукин В. В.; A. V. Nechesnyuk; Нечеснюк А. В.; V. V. Gornostaev; Горностаев В. В.; N. B. Kuzmenko; Кузьменко Н. Б.

doi:10.24287/1726-1708-2022-21-1-136-142

A case of medulloblastoma in a patient with hereditary angioedema with C1 inhibitor deficiency

Authors: Viktorova E.A.¹, Salnikova E.A.¹, Papusha L.I.¹, Shchukin V.V.¹, Nechesnyuk A.V.¹, Gornostaev V.V.¹, Kuzmenko N.B.¹
Affiliations:
1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Issue: Vol 21, No 1 (2022)
Pages: 136-142
Section: SCHOOL OF IMMUNOLOGY – EXPERT OPINION
Submitted: 30.03.2022
Accepted: 30.03.2022
Published: 30.03.2022
URL: https://hemoncim.com/jour/article/view/599
DOI: https://doi.org/10.24287/1726-1708-2022-21-1-136-142
ID: 599

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Abstract

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.