Аннотация:
Multiple sclerosis (MS) is a chronic inflammatory disease of infectious and allergic etiology, usually manifesting in young people by progressive symptoms of CNS damage due to demyelination of nerve fibers. Neurofibromatosis type 1 (NF-1) is a common monogenic disorder from the group of phacomatosis, inherited in an autosomal dominant pattern (OMIM: 162200). None clinical manifestations of NF-1 are associated with demyelination, while in the MS pathogenesis, loss of myelin by the axons of the central nervous system is a key element. Combination of these two diseases in one patient is extremely rare. In this article, we report a case of primary-progressive MS developed in a patient with NF-1, which had remained undiagnosed for many years. We analyzed possible mechanisms underlying pathogenetic relationship between these diseases and covered the main problems associated with the diagnosis of non-overt NF-1 in children. © 2019, Dynasty Publishing House. All rights reserved.
Воскресенская О. Н. Ольга Николаевна 1961-
Шмидт Т. Е. Татьяна Евгеньевна 1948-
Алексеева А. О. Анна Олеговна 1993-
Клишевская Л. А. Лариса Анатольевна 1951-
Казанцев К. Ю. Константин Юрьевич 1978-
Пушков А. А.
Савостянов К. В.
Асанов А. Ю. Алий Юрьевич 1945-
Voskresenskaya O. N. Ol`ga Nikolaevna 1961-
Shmidt T. E. Tat`yana Evgenyevna 1948-
Alekseeva A. O. Anna Olegovna 1993-
Klishevskaya L. A. Larisa Anatolyevna 1951-
Kazantsev K. Yu. Konstantin Yuryevich 1978-
Pushkov A. A.
Savostyanov K. V.
Asanov A. Yu. Alij Yuryevich 1945-
Combination of multiple sclerosis and neurofibromatosis type i, remained undiagnosed from early childhood
Текст визуальный непосредственный
Вопросы практической педиатрии
ООО "Издательство "Династия"
Т. 14, Вып. 3 С. 45-50
2019
Статья
Genetic counseling Multiple sclerosis Neurofibromatosis type 1 Non-overt disease
Article case report clinical article disease association human multiple sclerosis neurofibromatosis type 1 pathogenesis
Multiple sclerosis (MS) is a chronic inflammatory disease of infectious and allergic etiology, usually manifesting in young people by progressive symptoms of CNS damage due to demyelination of nerve fibers. Neurofibromatosis type 1 (NF-1) is a common monogenic disorder from the group of phacomatosis, inherited in an autosomal dominant pattern (OMIM: 162200). None clinical manifestations of NF-1 are associated with demyelination, while in the MS pathogenesis, loss of myelin by the axons of the central nervous system is a key element. Combination of these two diseases in one patient is extremely rare. In this article, we report a case of primary-progressive MS developed in a patient with NF-1, which had remained undiagnosed for many years. We analyzed possible mechanisms underlying pathogenetic relationship between these diseases and covered the main problems associated with the diagnosis of non-overt NF-1 in children. © 2019, Dynasty Publishing House. All rights reserved.