Zafeiriou D I, Michelakaki E M, Anastasiou A L, Gombakis N P, Kontopoulos E E
1st Pediatric Clinic, Aristotelian University of Thessaloniki, Greece.
Pediatr Neurol. 1996 Oct;15(3):240-4. doi: 10.1016/s0887-8994(96)00168-3.
We report serial clinical, radiological, and neurophysiological findings of a patient with late-infantile Krabbe disease. At age 13 months, the patient was hospitalized for sudden stiffness and irritability and a diagnosis of spastic diplegia was made. At age 24 months, he was readmitted because of further psychomotor deterioration; neurologically, he manifested severe spastic tetraplegia with optic atrophy. MRI disclosed diffuse high intensity in the cerebral white matter on T2-weighted images. Nerve conduction velocity and evoked potential studies were markedly abnormal, as were the EEG and the EMG. Assay of galactocerebroside beta-galactosidase activity in leukocyte culture disclosed a marked deficiency of the enzyme, confirmatory of the diagnosis of late-infantile Krabbe disease. Serial MRI and neurophysiological studies performed every 6 months for 18 months demonstrated the progressive nature of the disorder, correlating with the clinical deterioration.
我们报告了一名晚发性婴儿型克拉伯病患者的系列临床、影像学和神经生理学检查结果。该患者13个月大时因突然出现僵硬和易激惹症状住院，被诊断为痉挛性双瘫。24个月大时，因精神运动进一步恶化再次入院；神经系统检查显示，他表现为严重的痉挛性四肢瘫伴视神经萎缩。MRI在T2加权图像上显示脑白质弥漫性高信号。神经传导速度和诱发电位研究明显异常，脑电图和肌电图也是如此。白细胞培养中半乳糖脑苷脂β-半乳糖苷酶活性检测显示该酶明显缺乏，确诊为晚发性婴儿型克拉伯病。在18个月内每6个月进行一次的系列MRI和神经生理学研究证明了该疾病的进展性，与临床恶化情况相关。
