A rare case of Cohen syndrome and early infantile epileptic encephalopathy (type 52) in two-year-old girl
https://doi.org/10.17650/2073-8803-2019-14-2-35-41
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
Russian Federation
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
A. V. Dyuzhakova
Krasnoyarsk State Medical University named after V.F. Voino-Yasenetsky, Ministry of Health of Russia
Russian Federation
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
N. A. Shnayder
V.M. Bekhterev National Medical Research Centre of Psychiatry and Neurology
Russian Federation
Russian Federation
3, Bekhterev St., Saint Petersburg 192019
D. V. Dmitrenko
Krasnoyarsk State Medical University named after V.F. Voino-Yasenetsky, Ministry of Health of Russia
Russian Federation
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
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.
Review
For citations:
Olshanskaya A.S., Dyuzhakova A.V., Shnayder N.A., Dmitrenko D.V. A rare case of Cohen syndrome and early infantile epileptic encephalopathy (type 52) in two-year-old girl. Russian Journal of Child Neurology. 2019;14(2):35-41. (In Russ.) https://doi.org/10.17650/2073-8803-2019-14-2-35-41
Views:
1853
Email this article 