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

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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

Email: fake@neicon.ru

1 Partizan Zheleznyak St., Krasnoyarsk 660022

Russian Federation

N. A. Shnayder

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

Email: fake@neicon.ru

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

Email: fake@neicon.ru

1 Partizan Zheleznyak St., Krasnoyarsk 660022

Russian Federation

References

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