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Novikova E.S.

Russian Cardiology Research and Production Complex of the Ministry of Healthcare, Moscow, Russian Federation

Kotov A.S.

Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Kotalevskaya Yu.Yu.

GU Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Glukhova L.Iu.

kafedra nervnykh bolezneĭ pediatricheskogo fakul'teta Rossiĭskogo gosudarstvennogo meditsinskogo universiteta, Moskva

Bunak M.S.

Moscow Regional Research and Clinical Institute, Moscow, Russia

Semenova N.A.

Altai State Medical University, Ministry of Health of Russia, Barnaul

Niemann—Pick type C disease in a child

Authors:

Novikova E.S., Kotov A.S., Kotalevskaya Yu.Yu., Glukhova L.Iu., Bunak M.S., Semenova N.A.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2017;117(11‑2): 62‑66

DOI: 10.17116/jnevro201711711262-66

Read: 13958 times

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Table of contents

NIEMANN—PICK TYPE C DISEASE IN A CHILD
NIEMANN—PICK TYPE C DISEASE IN A CHILD

To cite this article:

Novikova ES, Kotov AS, Kotalevskaya YuYu, Glukhova LIu, Bunak MS, Semenova NA. Niemann—Pick type C disease in a child. S.S. Korsakov Journal of Neurology and Psychiatry. 2017;117(11‑2):62‑66. (In Russ.)
https://doi.org/10.17116/jnevro201711711262-66

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски (S.S. Korsakov Journal of Neurology and Psychiatry (special issues))
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Abstract:

The authors consider a clinical case of Niemann—Pick disease type C, an orphan hereditary autosomal recessive neurodegenerative disease belonging to the group of lysosomal storage disease, in an 11-year female patient with the late infantile form of the disease. The combination of psychomotor retardation, polymorphic neurological symptoms and physical changes in the form of isolated splenomegaly suggested the diagnosis of Niemann—Pick type C disease. DNA testing was carried out using direct automated sequencing. The patient was treated with miglustat.

Keywords:

Niemann—Pick disease type C
lysosomal storage diseases
vertical gaze palsy
molecular genetic testing
miglustat

Authors:

Novikova E.S.

Russian Cardiology Research and Production Complex of the Ministry of Healthcare, Moscow, Russian Federation

Kotov A.S.

Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Kotalevskaya Yu.Yu.

GU Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Glukhova L.Iu.

kafedra nervnykh bolezneĭ pediatricheskogo fakul'teta Rossiĭskogo gosudarstvennogo meditsinskogo universiteta, Moskva

Bunak M.S.

Moscow Regional Research and Clinical Institute, Moscow, Russia

Semenova N.A.

Altai State Medical University, Ministry of Health of Russia, Barnaul

Close metadata

References:

  1. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann—Pick disease type C: an update. Mol Genet Metab. 2012;106(3):330-344. https://doi.org/10.1016/j.ymgme.2012.03.012
  2. Vanier MT. Niemann—Pick disease type C. Orphanet J Rare Dis. 2010;5:16. https://doi.org/10.1186/1750-1172-5-16
  3. Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA. Diagnostic tests for Niemann—Pick disease type C (NP-C): A critical review. Mol Genet Metab. 2016;118(4):244-254. https://doi.org/10.1016/j.ymgme.2016.06.004
  4. Mikhailova SV, Zakharova EYu, Petrukhin AS. Neirometabolic diseases at children and teenagers: diagnostics and approaches to treatment. M.: Litterra; 2015. (In Russ.)
  5. Vanier MT. Complex lipid trafficking in Niemann—Pick disease type C. J Inherit Metab Dis. 2015;38(1):187-199. https://doi.org/10.1007/s10545-014-9794-4
  6. Papandreou A, Gissen P. Diagnostic workup and management of patients with suspected Niemann—Pick type C disease. Ther Adv Neurol Disord. 2016;9(3):216-229. https://doi.org/10.1177/1756285616635964
  7. Mengel E, Pineda M, Hendriksz CJ, Walterfang M, Torres JV, Kolb SA. Differences in Niemann—Pick disease Type C symptomatology observed in patients of different ages. Mol Genet Metab. 2017;120(3):180-189. https://doi.org/10.1016/j.ymgme.2016.12.003
  8. Bremova T, Krafczyk S, Bardins S, Reinke J, Strupp M. Vestibular function in patients with Niemann—Pick type C disease. J Neurol. 2016;263(11):2260-2270.
  9. Platt N, Speak AO, Colaco A, Gray J, Smith DA, Williams IM, Wallom KL, Platt FM. Immune dysfunction in Niemann—Pick disease type C. J Neurochem. 2016;136(suppl 1):74-80. https://doi.org/10.1111/jnc.13138
  10. Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA. Development of a suspicion index to aid diagnosis of Niemann—Pick disease type C. Neurology. 2012;78(20): 1560-1567. https://doi.org/10.1212/WNL.0b013e3182563b82
  11. Pineda M, Mengel E, Jahnová H, Héron B, Imrie J, Lourenço CM, vander Linden V, Karimzadeh P, Valayannopoulos V, Jesina P, Torres JV, Kolb SA. A Suspicion Index to aid screening of early-onset Niemann—Pick disease Type C (NP-C). BMC Pediatr. 2016;16:107. https://doi.org/10.1186/s12887-016-0641-7
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