Chorea-acanthocytosis:Report of 1 case

Abstract

To report one case of chorea-acanthocytosis (ChAc). The case study was done using indicators such as signs, clinical symptoms, biochemical markers, red blood cell morphology and gene sequencing observation. The patient's main signs and symptoms were mouth-tongue dystonia, tongue biting, abnormal gait, seizures, decreased gag reflex, decreased muscle tone, decreased tendon reflex. Blood lactate dehydrogenase (LDH, 459 U/L), creatine kinase (CK, 2806U/L), prolactin (PRL, 38.35ng/ml) were increased. There was a large number of acanthocyte in blood smear (50% of the red blood cell), and there were lots of acanthocytes in the blood smear of her parents (30% of father and 25% of mother). Electromyography showed peripheral nerve damage. Brain MRI scan showed caudate nucleus atrophy. Gene sequencing detected mutations in VPS13A. The following clinical features of the patient was used to diagnose the patient of ChAc: blood LDH, CK, PRL, blood smear, brain MRI imaging characteristics, gene sequencing result. There is limitation in the treatment of the disease. Hence there is the need for monitoring and exploration of effective methods of diagnosis and treatment.