Wender M, Pruchnik-Wolińska D, Paprzycki W, Czartoryska B
Zespołu Neuroimmunologii Instytutu Centrum Medycyny Doświadczalnej i Klinicznej PAN.
Psychiatr Pol. 1998 Jan-Feb;32(1):113-9.
Cases of metachromatic leucodystrophy in brother and sister are presented. The clinical pattern in the female was characterised by the progressing dementia, whereas in the male the first symptom was the manic syndrome. The neurological status was normal. The cases were diagnosed by the demyelination visible in MRI pattern and in the decreased activity of arylsulphatase A in blood leukocytes.
本文报告了一对兄妹患异染性脑白质营养不良的病例。女性患者的临床症状以进行性痴呆为特征，而男性患者的首发症状是躁狂综合征。神经系统检查正常。通过磁共振成像（MRI）显示的脱髓鞘改变以及血液白细胞中芳基硫酸酯酶A活性降低对病例进行了诊断。
