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

https://doi.org/10.14412/2074-2711-2016-3-66-70

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Abstract

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.

About the Authors

E. V. Saifullina
Bashkir State Medical University, Ministry of Health of Russia, Ufa, Republic of Bashkortostan, Russia 3, Lenin St., Ufa 450000, Republic of Bashkortostan Republican Perinatal Center, Ufa, Republic of Bashkorstan, Russia 41, Chernyshevsky St., Ufa 450076, Republic of Bashkortostan
Russian Federation


R. V. Magzhanov
Bashkir State Medical University, Ministry of Health of Russia, Ufa, Republic of Bashkortostan, Russia 3, Lenin St., Ufa 450000, Republic of Bashkortostan
Russian Federation


A. K. Mardanova
Republican Perinatal Center, Ufa, Republic of Bashkorstan, Russia 41, Chernyshevsky St., Ufa 450076, Republic of Bashkortostan
Russian Federation


T. Yu. Proshlyakova
Laboratory of Hereditary Metabolic Diseases, Research Center of Medical Genetics, Moscow, Russia 1, Moskvorechye St., Moscow 115478
Russian Federation


E. Yu. Zakharova
Laboratory of Hereditary Metabolic Diseases, Research Center of Medical Genetics, Moscow, Russia 1, Moskvorechye St., Moscow 115478
Russian Federation


S. A. Klyushnikov
Research Center of Neurology, Moscow, Russia 80, Volokolamskoe Shosse, Moscow 125367
Russian Federation


S. N. Illarioshkin
Research Center of Neurology, Moscow, Russia 80, Volokolamskoe Shosse, Moscow 125367
Russian Federation


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For citation:


Saifullina E.V., Magzhanov R.V., Mardanova A.K., Proshlyakova T.Y., Zakharova E.Y., Klyushnikov S.A., Illarioshkin S.N. A clinical case of adult onset Niemann–Pick disease type C. Neurology, Neuropsychiatry, Psychosomatics. 2016;8(3):66-70. (In Russ.) https://doi.org/10.14412/2074-2711-2016-3-66-70

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