LBSL (leukoencephalopathy with brain stem and spinal cord involvement and high lactate) without sparing of the u-fibers and globi pallidi: A case report

Paolo Galluzzi , Michele Sacchini , Gabriella Bartalini , Lucia Monti , Alfonso Cerase , Eleonora Lamantea , Federica Invernizzi , Massimo Zeviani , Paolo Balestri , Carlo Venturi
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引用次数: 8

Abstract

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate (LBSL) is a recently identified leukoencephalopathy, first described by Van der Knaap in 2003. To date 24 cases have been described. Distinctive features were as follows. First, brain MRI showed white matter abnormalities and involvement of brain stem structures. Second, sparing of the u-fibers was an invariant, distinctive feature of the syndrome. Third, whenever evaluated, spinal cord was always involved. Fourth, brain [1H]-MR spectroscopy failed to show a lactate peak in all cases. In our little child, the diagnosis was confirmed by genetic analysis but unlike previous report both the u-fibers and globus pallidus were involved; spectroscopic data were more consistent with hypomyelination than demyelination. Our findings add to the phenotype variability of this novel disease.

不保留u型纤维和苍白球的LBSL(累及脑干和脊髓并高乳酸血症的白质脑病):1例报告
累及脑干和脊髓并高乳酸血症(LBSL)的脑白质病是最近发现的一种脑白质病,由Van der Knaap于2003年首次描述。迄今已报告24例。其特点如下。首先,脑MRI显示白质异常和脑干结构受累。其次,u型纤维的保留是该综合征的一个不变的、显著的特征。第三,无论何时进行评估,脊髓总是受到影响。第四,所有病例的脑[1H]-MR谱均未显示乳酸峰。在我们的小孩中,基因分析证实了诊断,但与先前的报道不同的是,u-纤维和苍白球都受到影响;光谱数据更符合低髓鞘而非脱髓鞘。我们的发现增加了这种新型疾病的表型变异性。
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