A rare case of Cohen syndrome and early infantile epileptic encephalopathy (type 52) in two-year-old girl

Cover Page

Cite item

Full Text

Abstract

The authors presented short review of Russian and foreign literature and clinical case of the girl with a rare monogenic disease Cohen syndrome and early infantile epileptic encephalopathy. Problems of differential diagnosis of Cohen syndrome with other neuro-oculocutaneous diseases are analyzed.

About the authors

A. S. Olshanskaya

Krasnoyarsk State Medical University named after V.F. Voino-Yasenetsky, Ministry of Health of Russia

Author for correspondence.
Email: annaolsh@mail.ru

1 Partizan Zheleznyak St., Krasnoyarsk 660022

Russian Federation

A. V. Dyuzhakova

Krasnoyarsk State Medical University named after V.F. Voino-Yasenetsky, Ministry of Health of Russia

1 Partizan Zheleznyak St., Krasnoyarsk 660022

Russian Federation

N. A. Shnayder

V.M. Bekhterev National Medical Research Centre of Psychiatry and Neurology

3, Bekhterev St., Saint Petersburg 192019

Russian Federation

D. V. Dmitrenko

Krasnoyarsk State Medical University named after V.F. Voino-Yasenetsky, Ministry of Health of Russia

1 Partizan Zheleznyak St., Krasnoyarsk 660022

Russian Federation

References

  1. Levchenko O.A., Zinchenko R.A., Lavrov A.V. Familial case of Cohen syndrome: a case report. Vestnik RGMU = Bulletin of Russian State Medical University 2017;4:37–41. (In Russ.).
  2. Balikova I., Lehesjoki A.E., de Ravel T.J. et al. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat 2009;30(9):845–54. doi: 10.1002/humu.21065.
  3. Caputo R., Tadini G. Cohen’s syndrome. In: Atlas of genodermatoses. London, New York: Taylor and Francis, 2006. Pp. 650– 653.
  4. Chandler K.E., Kidd A., Al-Gazali L. et al. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 2003;40(4):233–41. doi: 10.1136/jmg.40.4.233.
  5. Falk M.J., Feiler H.S., Neilson D.E. et al. Cohen syndrome in the Ohio Amish. Am J Med Genet Part A 2004;128(1): 23–8. doi: 10.1002/ajmg.a.30033.
  6. Kivitie-Kallio S., Autti T., Salonen O. et al. MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. Neuropediatrics 1998;29(6):298–301. doi: 10.1055/s-2007-973581.
  7. Kivitie-Kallio S., Eronen M., Lipsanen-Nyman M. et al. Cohen syndrome: evaluation of its cardiac, endocrine and radiological features. Clin Genet 1999;56(1):41–9. doi: 10.1034/j.1399-0004.1999.560106.
  8. Kivitie-Kallio S., Larsen A., Kajasto K. et al. Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years. Neuropediatrics 1999;30(4):181–9. doi: 10.1055/s-2007-973488.
  9. Kivitie-Kallio S., Summanen P., Raitta C. et al. Ophthalmologic findings in Cohen syndrome: a long-term follow-up. Ophthalmology 2000;107(9):1737–45. doi: 10.1016/S0161-6420(00)00279-7.
  10. Kolehmainen J., Black G.C., Saarinen A. et al. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet 2003;72(6):1359–69. doi: 10.1086/375454.
  11. Kolehmainen J., Wilkinson R., Lehesjoki A.E. et al. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet 2004;75(1): 122–7. doi: 10.1086/422197.
  12. Peeters K., Willekens D., Steyaert J. et al. The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics. Genet Couns 2008;19(1):1–14.
  13. Rejeb I., Jilani H., Elaribi Y. et al. First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. BMC Med Geent 2017;18(1):134–9. doi: 10.1186/s12881017-0493-5.
  14. Seifert W., Holder-Espinasse M., Spranger S. et al. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet 2006;43(5):e22. doi: 10.1136/jmg.2005.039867
  15. Seifert W., Kühnisch J., Maritzen T. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem 2011;286(43):37665–75. doi: 10.1074/jbc.M111.267971.
  16. Taban M., Memoracion-Peralta D.S., Wang H. et al. Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. J AAPOS 2007;11(5):431–7. doi: 10.1016/j.jaapos.2007.01.118.
  17. Tahvanainen E., Norio R., Karila E. et al. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 1994;7(2):201–4. doi: 10.1038/ng0694-201.
  18. Wang H., Falk M.J., Wensel C. et al. Cohen syndrome. In: GeneReviews®. Eds.: Pagon R.A., Adam M.P., Ardinger H.H. et al. Seattle: University of Washington, Seattle, 1993–2017.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2019 Olshanskaya A.S., Dyuzhakova A.V., Shnayder N.A., Dmitrenko D.V.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 22926 от  12.01.2006.