家族遗传性舞蹈样运动-棘红细胞症

目的　报道舞蹈样运动 -棘红细胞症一个家系的临床特点 ,随访 6年观察其治疗及预后。方法　对先证者进行临床血生化、电生理、影像学等检查 ,对家系中父母及兄妹四人均进行周围血涂片棘红细胞计数检测。结果　此家系中 ,先证者及弟、妹三人均为 30岁左右起病 ,主要症状为癫痫发作、进行性口舌不自主运动、咬舌及四肢舞蹈样动作 ,MRI提示尾状核萎缩 ,周围血棘红细胞计数增多。卡马西平对癫痫发作有效。随访 6年 ,1例死亡 ,2例失去生活自理能力。结论　本病是一种罕见的神经系统遗传性疾病 ,其诊断主要依靠临床表现、特征性的影像学结果及周围血涂片棘红细胞计数增高 ,临床症状中可有癫痫发作。本病无特殊治疗、预后较差

Hereditary chorea-acanthocytosis

Objective To observe the clinical features, treatment and prognosis of chorea-acanthocytosis in one genealogy during a six-year follow-up. Methods The proband was examined in respects of blood chemicobiological, eletrophysiologic and neuroimage examinations, etc. The count of acanthocyte in the peripheral blood was examined for the parents and the four offsprings of the genealogy. Results Three cases: proband and his two siblings, began to be involved in their 30 years old and the main symptoms were as follows, epileptic seizure, progressing non-independent movement of mouth and tongue, tongue-biting and chorea. There was a excessive count of acanthocyte in peripherial blood and a shrinked caudate nucleus on MRI. Carbamazepine effects on controlling epileptic seizure. During the 6 years, 1 of 3 cases died and the others lost self-living ability. Conclusion Hereditary chorea-acanthocytosis is an infrequent nervous system hereditary disease. The diagnosis depend on the clinical feature of chorea movements, a lot of acanthocytes in peripherial blood and special MRI. Epileptic seizure can be a sign of the disease. So far, there is no effective treatment for chorea-acanthocytosis and its prognosis is worse.