Acanthocytosis
10.3760/cma.j.cn113694-20240304-00132
- VernacularTitle:棘红细胞增多症
- Author:
Xiaoli YAO
1
;
Liang WANG
Author Information
1. 中山大学附属第一医院神经科 广东省重大神经疾病诊治研究重点实验室 国家临床重点专科和国家重点学科，广州 510080
- Keywords:
Acanthocytosis;
Etiology;
Diagnosis;
Treatment
- From:
Chinese Journal of Neurology
2024;57(7):783-788
- CountryChina
- Language:Chinese
-
Abstract:
Acanthocytosis is a genetic disease with abnormal increase of acanthocytes and neurological injuries, and its patterns of inheritance include autosomal recessive, autosomal dominant, and X-linked recessive inheritance. Neurological symptoms can be represented with movement disorders, such as chorea, ataxia, psychiatric symptoms, cognitive dysfunction, neuromuscular damages, etc. Furthermore, multisystemic involvements, such as heart, eye, gastrointestinal tract, and metabolism, can occur in acanthocytosis. The disease is rare, with variable clinical manifestations and is easy to be misdiagnosed. This article introduces the etiology, epidemiology, clinical manifestations, auxiliary examination, diagnosis and differential diagnosis, treatment and prognosis of the disease.
