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

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.

Keywords

• cohen syndrome
• infantile epileptic encephalopathy
• neuro-oculocutaneous syndromes
• differential diagnosis