Farley T J, Ketonen L M, Bodensteiner J B, Wang D D
Department of Radiology, University of Rochester Medical Center, NY 14642.
Pediatr Neurol. 1992 Nov-Dec;8(6):455-8. doi: 10.1016/0887-8994(92)90009-n.
Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive childhood disorder characterized by severe motor and mental deterioration. The disease has been divided into 3 main types and further subdivided into several subtypes based on age of onset and symptoms. Initial clinical findings and magnetic resonance imaging (MRI) with several follow-up scans are presented to identify the order and extent of white matter involvement and developing brain atrophy in a child with the floppy infant variant of Krabbe disease. When the patient's clinical condition proceeded to stage 2, MRI disclosed severe involvement of the deep white matter around the atria and posterior limbs of the internal capsules. At the same time there was progression of normal myelination around the frontal horns. At age 32 months, the patient's clinical condition proceeded to stage 3; she did not interact with her environment. MRI revealed a significant decrease of white matter volume, generalized atrophy, and abnormal high signal in all white matter areas except the anterior limbs of the internal capsules. At the same time the volume of the central gray nuclei was decreased and also demonstrated abnormal high signal. Despite its sensitivity, MRI could not differentiate the findings of this variant of Krabbe disease from the classic form; therefore, subclassifications of Krabbe disease should be made on clinical grounds because they cannot be distinguished by biochemical or radiologic (MRI) criteria.
克拉伯病（球形细胞脑白质营养不良）是一种常染色体隐性遗传性儿童疾病，其特征为严重的运动和智力衰退。根据发病年龄和症状，该疾病已被分为3种主要类型，并进一步细分为若干亚型。本文展示了一名患松软婴儿型克拉伯病儿童的初始临床检查结果以及多次随访扫描的磁共振成像（MRI），以确定白质受累的顺序和程度以及脑萎缩的发展情况。当患者的临床状况发展到2期时，MRI显示内囊心房和后肢周围的深部白质严重受累。与此同时，额角周围的正常髓鞘形成也在进展。在32个月大时，患者的临床状况发展到3期；她不再与周围环境互动。MRI显示白质体积显著减少、广泛性萎缩，除内囊前肢外的所有白质区域均出现异常高信号。与此同时，中央灰质核体积减小，也显示出异常高信号。尽管MRI具有敏感性，但它无法将这种克拉伯病变体的表现与经典形式区分开来；因此，克拉伯病的亚型分类应以临床依据为准，因为无法通过生化或放射学（MRI）标准进行区分。
