Analysis of clinical phenotype and gene mutation in chorea-acanthocytosis with epilepsy as the initial onset: one case report

Abstract

Objective To report one case of chorea ? acanthocytosis (ChAc) with initial onset of epilepsy and summarize the characteristics of clinical phenotype and gene mutation.  Methods and Results A 37 ? year ? old female suffered from paroxysmal disturbance of consciousness and convulsive seizures for 9 years, involuntary movement of limbs and slurred speech for 6 years, and choreic movement of four limbs for 4 years. Proportions of acanthocytes in peripheral blood smear were 13.50% and 12.60%, respectively. Scanning electron microscopy also found a large amount of acanthocytes in peripheral blood. 18F ? fluoro ? 2 ? deoxy ? D ? glucose (18F ? FDG) PET showed obvious atrophy and hypometabolism in bilateral caudate nuclei and putamen. Gene sequencing showed T > G homozygous mutations located in chromosome 9: 79824439 (GRCh37.hg19) which led to nonsense mutation of VPS13A gene. The definite diagnosis was ChAc and the patient took oral vitamin E 0.20 g/time and 3 times/d. The symptoms were slightly exacerbated after 3 ? year follow ? up.  Conclusions ChAc has various types of clinical manifestation. Epilepsy is a rare onset symptom. Currently there is no effective treatment. Early definite diagnosis and timely symptomatic treatment is helpful for improving the life quality of patients.

DOI: 10.3969/j.issn.1672-6731.2018.05.009