Abstract
Abstract: To report 1 case of chorea-acanthocytosis (ChAc). The case was studied with clinical symptoms,signs, biochemical,red blood cell morphology and gene sequencing observation.The patient’s main symptoms and signs were mouth-tongue dystonia, tongue bite, walking instability, seizures,abated gag reflex,decreased muscle tone,abated tendon reflex.Blood lactate dehydrogenase (LDH, 459 U/L) ,creatine kinase (CK, 2806 U/L), prolactin (PRL, 38.35 ng/ml)were increased.There were large number of acanthocyte in blood smear(50% of the red blood cell),and there were lot acanthocyte in blood smear of her parents(30% of father and 25% of mother).Electromyography showed peripheral nerve damage. Brain MRI scans showed caudate nucleus atrophy.Gene sequencing detected mutations in VPS13A. According to the clinical features of patients, blood LDH, CK, PRL,blood smear, brain MRI imaging characteristics, gene sequencing result, the patient diagnosed ChAc.The disease treatment is limited, need clinical tracking,and explore effective methods of diagnosis and treatment. Keywords: chorea;acanthocyteosis
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