A clinical case of adult onset Niemann–Pick disease type C

Autor:	E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin
Jazyk:	ruština
Rok vydání:	2016
Předmět:	lysosomal storage disease niemann–pick disease type c vertical supranuclear gaze palsy splenomegaly ataxia dystonia dementia mental disorders oxysterols molecular genetic analysist Neurology. Diseases of the nervous system RC346-429
Zdroj:	Неврология, нейропсихиатрия, психосоматика, Vol 8, Iss 3, Pp 66-70 (2016)
Druh dokumentu:	article
ISSN:	2074-2711 2310-1342
DOI:	10.14412/2074-2711-2016-3-66-70
Popis:	The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease. There is information about developed pathogenic miglustat substrate reduction therapy for NPC. The authors describe their clinical case of adult-onset NPC in a 32-year-old female patient. The clinical syndrome and the results of laboratory and instrumental studies that could establish an accurate diagnosis and determine indications for pathogenetic therapy are given in detail.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/584973fbed9140e08323e26d8768098f Zobrazit plný text záznamu View record in DOAJ