A case of Niemann – Pick disease type C
https://doi.org/10.14412/2074-2711-2013-2454
Abstract
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases. It gives an update on the etiology and pathogenesis of this type of glycosphingolipidosis and on established gene mutations. The clinical polymorphism of NPC and the trends in the development of somatic, mental, and neurological disorders are highlighted in relation to the onset age of the disease. The problem of differential diagnosis is discussed. The diagnostic NPC probability index in scores and the latest methods for laboratory diagnostic verification, including molecular genetic testing, are presented.
Information is given on specific substrate reduction therapy with miglustat for NPC.
About the Authors
Sergei Anatolyevich Klyushnikov
Neurology Research Center, Russian Academy of Medical Sciences, Moscow
Russian Federation
Russian Federation
O R Smirnov
Moscow Research Institute of Psychiatry, Ministry of Health of Russia
Russian Federation
Russian Federation
E Yu Zakharova
Medical Genetics Research Center, Russian Academy of Medical Sciences, Moscow
Russian Federation
Russian Federation
References
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Review
For citations:
Klyushnikov S.A., Smirnov O.R., Zakharova E.Yu. A case of Niemann – Pick disease type C. Neurology, Neuropsychiatry, Psychosomatics. 2013;5(4):43-48. (In Russ.) https://doi.org/10.14412/2074-2711-2013-2454
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