Cohen syndrome with insulin resistance and seizure.
Cohen syndrome is a rare, genetic, connective-tissue disorder with the genetic abnormality linked to chromosome 8q22. The diagnosis of Cohen syndrome is based on the recognition of certain clinical findings, which include mental retardation, typical morphologic stigmata (e.g., truncal obesity, hypotonia, short philtrum, prominent frontal incisors, high-arched palate, narrow hands and feet), and characteristic ophthalmologic abnormalities. We report a patient manifesting the typical characteristics of Cohen syndrome with seizure and hyperinsulinemia.
Atabek
Mehmet Emre
ME
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
Keskin
Mehmet
M
Kurtoğlu
Selim
S
Kumandas
Sefer
S
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000503:physiopathology; D002648:Child; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D007333:Insulin Resistance / Q000502:physiology; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D012640:Seizures / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D013577:Syndrome