Linnankivi T, Lundbom N, Autti T, Häkkinen A-M, Koillinen H, Kuusi T, Lönnqvist T, Sainio K, Valanne L, Aärimaa T, Pihko H
Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Stenbäckinkatu 11, FIN-00290 Helsinki, Finland.
Neurology. 2004 Aug 24;63(4):688-92. doi: 10.1212/01.wnl.0000134658.35601.41.
A new leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate was recently defined. The authors describe five new patients with this entity.
Brain MRI was performed in all patients and spinal MRI and proton magnetic resonance spectroscopy (1H-MRS) in four patients. Laboratory examinations ruled out classic leukodystrophies.
MRI showed signal abnormalities in the periventricular and deep white matter, in the pyramidal tracts, mesencephalic trigeminal tracts, in the cerebellar connections, and in dorsal columns of the spinal cord. MRS showed decreased N-acetylaspartate and increased lactate in the white matter of all patients. In one patient choline-containing compounds were elevated. A slowly progressive sensory ataxia and tremor manifested at the age of 3 to 16 years and distal spasticity in adolescence. One 13-year-old patient was asymptomatic.
A slowly progressive sensory ataxia is a typical feature in this new leukodystrophy. MRS favors a primary axonal degeneration.
最近定义了一种新的伴有脑干和脊髓受累及脑乳酸水平升高的白质脑病。作者描述了五例患有该疾病的新患者。
对所有患者进行了脑部磁共振成像（MRI）检查，对其中四例患者进行了脊髓MRI和质子磁共振波谱（1H-MRS）检查。实验室检查排除了典型的脑白质营养不良。
MRI显示脑室周围和深部白质、锥体束、中脑三叉神经束、小脑连接以及脊髓后索存在信号异常。MRS显示所有患者白质中N-乙酰天门冬氨酸减少，乳酸增加。一名患者含胆碱化合物升高。在3至16岁时出现缓慢进展的感觉性共济失调和震颤，青春期出现远端痉挛。一名13岁患者无症状。
缓慢进展的感觉性共济失调是这种新的脑白质营养不良的典型特征。MRS提示原发性轴索变性。
