球形细胞脑白质营养不良(globoid cell leukodystrophy, GBL)或称Krabbe’s病,是罕见的常染色体隐性遗传性疾病,由于半乳糖苷神经酰胺β—半乳糖苷酶(Galcer-ase)缺乏,致使神经鞘氨醇半乳糖苷(galactosyl sphingosine)发生沉积,从而对中枢神经系统和周围神经产生毒性作用.根据出现症状的年龄分为早期婴儿型、迟发婴儿型、少年型、青年型、成年型.作者报告同胞两例,父母有血缘关系.先证者为女,19岁,首次就诊时主要为右上肢姿势性震颤,左下肢中枢性轻瘫,双巴彬斯基征阳性,无周围神经损害和智力障碍表现.EMG和神经传导速度正常,脑脊液蛋白增高.MRI示弥漫性对称性枕叶白质密度增高,9个月后病情迅速进展,出现周围神经受累征,EMG有脱髓鞘性感觉运动神经病证据,腓肠神经活检有轻度脱髓鞘改变,未见球形细 Global cell leukodystrophy (GBL), or Krabbe’s disease, is a rare autosomal recessive disease that results in the loss of neurons due to lack of Gal-ase Sphingosine galactosyl galactosyl (galactosyl) sphingosine deposition occurs, which have toxic effects on the central nervous system and peripheral nerve.According to the age of onset of symptoms are divided into early infancy, late infantile, juvenile, adolescent, adulthood. The author reported two cases of siblings, parents of blood relationship.The proband was female, 19 years old, the first visit is mainly for the right upper extremity postural tremor, left lower extremity central paresis, double Babinski sign positive without peripheral nerve damage And mental retardation performance.EMG and nerve conduction velocity is normal, cerebrospinal fluid protein increased.MRI showed diffuse symmetry occipital lobe white matter density increased 9 months later, the rapid progression of the disease, peripheral nerve involvement syndrome, EMG demyelinating sensory movement Neurological evidence, sural nerve biopsy mild demyelination, no spherical fine