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A case of Niemann – Pick disease type C

https://doi.org/10.14412/2074-2711-2013-2454

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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


O R Smirnov
Moscow Research Institute of Psychiatry, Ministry of Health of Russia
Russian Federation


E Yu Zakharova
Medical Genetics Research Center, Russian Academy of Medical Sciences, Moscow
Russian Federation


References

1. <div><p>Liscum L, Klansek JJ. Niemann-Pick disease type C. Curr Opin Lipidol. 1998;9(2):131–5. DOI: http://dx.doi.org/10.1097/00041433-199804000-00009.</p><p>Morris JA, Carstea ED. Niemann-Pick C disease: cholesterol handling gone awry. Mol Med Today. 1998;4(12):525–31. DOI: http://dx.doi.org/10.1016/S1357-4310(98)01374-4.</p><p>Carstea ED, Morris JA, Coleman KG et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997;277(5323):228–31. DOI: http://dx.doi.org/10.1126/science.277.5323.228.</p><p>Naureckiene S, Sleat DE, Lackland H et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science. 2000;290(5500):2298–301. DOI: http://dx.doi.org/10.1126/science.290.5500.2298.</p><p>Михайлова СВ, Захарова ЕЮ. Болезнь Ниманна–Пика тип С: методическое пособие. Москва: ГЭОТАР-Медиа; 2012. [Mikhaylova SV, Zakharova EYu. Bolezn' Nimanna–Pika tip S: metodicheskoe posobie. Moscow: GEOTAR-Media; 2012.]</p><p>Михайлова СВ, Захарова ЕЮ, Петрухин АС. Нейрометаболические заболевания у детей и подростков. Диагностика и подходы к лечению. Москва: Литтерра; 2011. [Mikhaylova SV, Zakharova EYu, Petrukhin AS. Neyrometabolicheskie zabolevaniya u detey i podrostkov. Diagnostika i podkhody k lecheniyu. Moscow: Litterra; 2011.]</p><p>Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16. DOI: 10.1186/1750-1172-5-16.</p><p>Клюшников СА. Алгоритм диагностики болезни Ниманна–Пика, тип С. Нервные болезни. 2012;4:8–12. [Klyushnikov SA. Algoritm diagnostiki bolezni Nimanna–Pika, tip S. Nervnye bolezni. 2012;4:8–12.]</p><p>Руденская ГЕ, Букина ТМ, Захарова ЕЮ. Болезнь Ниманна–Пика, тип С: взрослая форма с преобладанием психических расстройств. Журнал неврологии и психиатрии им. С.С. Корсакова. 2011;111(7):71–5. [Rudenskaia GE, Bukina TM, Zakharova EIu. Niemann-Pick disease, type C: an adult form with the prevalence of psychiatric presentations. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 2011;111(7):71–5.</p><p>Wijburg FA, Sedel F, Pineda M et al. Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C. Neurology. 2012;78(20):1560–7. DOI: 10.1212/WNL.0b013e3182563b82. Epub 2012 Apr 18.</p><p>Jiang X, Sidhu R, Porter FD et al. A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res. 2011;52(7):1435–45. DOI: 10.1194/jlr.D015735. Epub 2011 Apr 24.</p><p>Szakszon K, Szegedi I, Magyar A et al. Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient. Eur J Paediatr Neurology. 2013;pii: S1090-3798(13)00132-3. DOI: 10.1016/j.ejpn.2013.08.002.</p><p>Новиков ПВ, Семячкина АН, Воинова ВЮ, Захарова ЕЮ. Федеральные клинические рекомендации по диагностике и лечению болезни Ниманна–Пика тип С. Москва; 2013. Доступ по ссылке: http://www.med-gen.ru/docs/bolezn-nimanna-pika-tip-c.pdf [Novikov PV, Semyachkina AN, Voinova VYu, Zakharova EYu. Federal'nye klinicheskie rekomendatsii po diagnostike i lecheniyu bolezni Nimanna–Pika tip S. Moscow; 2013. Available from http://www.med-gen.ru/docs/bolezn-nimanna-pika-tip-c.pdf</p><p>Wraith JE. Baumgartner MR, Bembi B et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009;98(1–2):152–65. DOI: 10.1016/j.ymgme.2009.06.008. Epub 2009 Jun 14.</p><p>Patterson MC, Hendriksz CJ, Walterfang M et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106(3):330–44. DOI: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8.</p><p>Mengel E, Hans-Hermann Klünemann HH, Lourenco CM et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis. 2013;8(1):166. DOI: http://dx.doi.org/10.1186/1750-1172-8-166.</p></div><br />


For citation:


Klyushnikov S.A., Smirnov O.R., Zakharova E.Y. 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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ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)