Abstract
Objective To investigate the clinical symptoms, the results of auxiliary examinations and treatment ofchorea-acanthocytosis (ChAc). Methods Retrospective analysis of the clinical data of 2 patients with ChAc were performed. Results The main clinical symptoms of ChAc were involuntary choreiform movement, with its typical characteristic of habitual tongue and lip biting; increased amount of acanthocytes in the peripheral blood was noted; epileptic seizure, peripheral nerve injury, cognitive impairment and psychiatric symptoms, elevated muscular enzyme spectrum and shrinked caudate nucleus might appear. Symptomatic and supportive treatments were needed. Conclusion ChAc is a rare progressive hereditary neurodegenerative disease. The clinical features, increased amount of acanthocyte in the peripheral blood, characteristic imaging findings and electrophysiologic changes can be help in the diagnosis of ChAc. Its prognosis is worse, thus, early diagnosis and in-time treatment are important, which can be realized by early blood smear examination for suspicious patients. Key words: Chorea; Acanthocyte; Dystonia
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