Fukutani Y, Noriki Y, Sasaki K, Isaki K, Kuriyama M, Kurosawa K, Ida H
Department of Neuropsychiatry, Fukui Medical University, Japan.
Psychiatry Clin Neurosci. 1999 Jun;53(3):425-8. doi: 10.1046/j.1440-1819.1999.00569.x.
A 26-year-old Japanese woman slowly developed a change of character such as hypospontaneity and blunted affect, followed by obvious mental deterioration. She was diagnosed as having a disorganized type of schizophrenia at the first examination. Brain magnetic resonance imaging demonstrated diffuse high intensity in the cerebral white matter, particularly in the frontal lobes. The single photon emission computed tomography images using 123I-IMP disclosed diffuse cerebral hypofusion, especially in the frontal lobes. Electroencephalogram showed a moderate amount of 5-6Hz theta waves on the background of alpha activity. Nerve conduction velocities in the extremities were delayed. The level of leucocyte arylsulphatase was low. In the arylsulphatase A gene analysis, a compound heterozygote having the 99Gly-->Asp and 409Thr-->Ile mutations was confirmed. The patient was diagnosed as having metachromatic leukodystrophy. She gradually showed obvious dementing symptoms such as memory disturbance and disorientation. The characteristics of the psychiatric symptoms in the leukodystrophy are discussed.
一名26岁的日本女性逐渐出现性格改变，如自发性降低和情感迟钝，随后出现明显的精神衰退。初次检查时她被诊断为紊乱型精神分裂症。脑磁共振成像显示脑白质弥漫性高信号，尤其是额叶。使用123I-IMP的单光子发射计算机断层扫描图像显示全脑弥漫性灌注不足，特别是额叶。脑电图显示在α波活动背景上有中等量的5-6Hzθ波。四肢神经传导速度延迟。白细胞芳基硫酸酯酶水平较低。在芳基硫酸酯酶A基因分析中，证实为具有99Gly→Asp和409Thr→Ile突变的复合杂合子。该患者被诊断为异染性脑白质营养不良。她逐渐出现明显的痴呆症状，如记忆障碍和定向障碍。本文讨论了脑白质营养不良中精神症状的特点。
