Hiersemenzel L P, Johannes S, Themann P, Hofferberth B
Abteilung Neurologie und Klinische Neurophysiologie, Klinikum der Albert-Ludwigs-Universität, Freiburg.
Nervenarzt. 1996 Jun;67(6):490-5.
A 43 year old male patient is reported who presented at the age of 33 years with a hyperkinetic movement disorder. At the time of presentation orofacial dyskinesias, tic-like hyperkinesias with vocalisation and behavioural disturbance dominated the clinical picture. In the course of his illness he developed a marked truncal choreoathetosis and a symmetrical, distal, predominantly motor polyneuropathy with wasting of lower leg muscles. Serum creatinine kinase levels were markedly elevated. Serum lipids and lipoproteins were within normal limits. These clinical features in combination with an increased number of acanthocytes, clearly visible after dilution of whole blood with normal saline (1:1), led to the diagnosis of choreoacanthocytosis (CA). Both parents were neurologically and behaviourally normal, but were found to have acanthocytes in saline diluted whole blood. The literature concerning CA is reviewed.
据报道，一名43岁男性患者在33岁时出现运动亢进性运动障碍。就诊时，口面部运动障碍、伴有发声的抽动样运动亢进和行为障碍是主要临床表现。在病程中，他出现了明显的躯干舞蹈手足徐动症以及对称性、远端、以运动为主的多神经病，并伴有小腿肌肉萎缩。血清肌酸激酶水平显著升高。血清脂质和脂蛋白在正常范围内。这些临床特征，再加上棘红细胞数量增加（用生理盐水[1:1]稀释全血后清晰可见），导致诊断为舞蹈病性棘红细胞增多症（CA）。父母双方神经和行为均正常，但在生理盐水稀释的全血中发现有棘红细胞。本文对有关CA的文献进行了综述。
