FATMA GÜLHAN ŞAHBAZ, İLKNUR GÜÇLÜ ALTUN, AFRA CELİK, BEKİR ENES DEMİRYUREK, BANU ÖZEN BARUT
Southern Clinics of Istanbul Eurasia - 2023;34(4):371-373
McLeod syndrome is a rare seen chorea etiology. A patient with chorea, epilepsy and cardiac problems usually suggests a neuroachantocytosis syndrome and the definite diagnosis depends on a detailed genetic investigation. Here we report 57 and 39 years old males who developed choreiform movements and tics afterwards, causing social disturbances and walking difficulty. Depending on the acanthocytosis seen on peripheral blood smear and genetic investigation, the patients has been diagnosed as McLeod syndrome with a novel and point mutations.
