CAJ | 학술논문

目的报道神经棘红细胞增多症一家系3例。方法对先证者进行临床、血生化、激素水平及红细胞形态的布氏相差显微镜及扫描电镜观察。结果此家系中患者均为20岁左右起病的女性，主要症状为进行性舞蹈样动作，睡眠后舞蹈动作并不消失。先证者有精神抑郁、棘形红细胞增多（扫描电镜观察百分比为44.3%）、血浆载脂蛋白B100水平明显降低（0.26g/L）及泌乳素水平显著升高（96.3μg/L）特征。结论先证者的临床表现、化验检查及电镜观察结果，符合神经-棘红细胞增多症的诊断。此病例除载脂蛋白B100缺乏外，还同时伴有高泌乳素血症。生物相差显微镜与扫描电镜观察能反映棘形红细胞增多的真实程度。
목적 보도신경극홍세포증다증일가계3례。방법 대선증자진행림상、혈생화、격소수평급홍세포형태적포씨상차현미경급소묘전경관찰。결과 차가계중환자균위20세좌우기병적녀성，주요증상위진행성무도양동작，수면후무도동작병불소실。선증자유정신억욱、극형홍세포증다（소묘전경관찰백분비위44.3%）、혈장재지단백B100수평명현강저（0.26g/L）급비유소수평현저승고（96.3μg/L）특정。결론 선증자적림상표현、화험검사급전경관찰결과，부합신경-극홍세포증다증적진단。차병례제재지단백B100결핍외，환동시반유고비유소혈증。생물상차현미경여소묘전경관찰능반영극형홍세포증다적진실정도。
Objective To report 3 cases of neuroacanthocytosis in a family.Methods The proband was studied clinically with biochemistry, hormone, and red blood cells observation. Results All patients in this family were females with progressive choreiform movements, and the age of onset was about at 20 years old. The choreiform movements did not disappear in sleeping state. The proband had mental depression，the percentage of acanthocytes was 45.2% under observation with phase-contrast microscope (PCM) and 44.3% with scanning electron microscope (SEM)，the concentration of apolipoprotein B100 was markedly decreased（0.26 g/L） and the prolactin （PRL）concentration was increased （96.3 μg/L） more than normal level. Conclusions The manifestations of the proband were in conformity with those of the neuroacanthocytosis. The patient had an apolipoprotein B100 metabolic defect and a high PRL secretion. The observation with PCM and SEM is able to reveal the acanthocytes cell count accurately.