A new leukoencephalopathy with vanishing white matter
A new leukoencephalopathy with vanishing white matter
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DOI：
10.1212/wnl.48.4.845
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发表时间：
1997-04-01
期刊：
影响因子：
9.9
通讯作者：
Valk, J
中科院分区：
文献类型：
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作者：
vanderKnaap, MS;Barth, PG;Valk, J
我们根据临床和MRI结果确定了9名患有类似类型白质脑病的儿童。患者包括三对受影响的兄弟姐妹。年龄范围为3至19岁。发病于儿童期，病程呈慢性进展性和间歇性。感染和轻微头部创伤后会出现病情恶化，这可能导致无法解释的昏迷。在8例晚期疾病患者中，MRI显示弥漫性大脑半球白质脑病，其中异常白色物质的增加区域在所有脉冲序列上具有接近CSF的信号强度。在一个病人在疾病的早期阶段，最初的MRI显示弥漫性异常的大脑白色物质，这只是在后期达到CSF的信号特征。在疾病进展的患者中，白色物质的磁共振波谱（MRS）显示所有正常信号几乎完全消失，并存在葡萄糖和乳酸盐，与主要CSF和少量脑组织的存在相一致。皮质的光谱保存得更好。然而，除了正常的共振，还有代表乳酸和葡萄糖的信号。早期患者的白色物质的MRS异常要少得多。一名患者的尸检证实存在大脑白色物质的广泛囊性变性，伴有反应性变化和保留的皮质。MRI显示脑桥被盖白色物质的典型受累，并经尸检证实。该病可能具有常染色体隐性遗传方式，但基本代谢缺陷尚不清楚。
We identified nine children with a leukoencephalopathy of similar type according to clinical and MRI findings. The patients included three affected sibling pairs. The age range was 3 to 19 years. The onset of the disease was in childhood; the course was both chronic-progressive and episodic. There were episodes of deterioration following infections and minor head traumas, and these could result in unexplained coma. In eight patients with advanced disease, MRI revealed a diffuse cerebral hemispheric leukoencephalopathy, in which increasing areas of the abnormal white matter had a signal intensity close to that of CSF on all pulse sequences. In one patient in the early stages of disease, initial MRI showed diffusely abnormal cerebral white matter, which only reached the signal characteristics of CSF at a later stage. In the patients in whom the disease was advanced, magnetic resonance spectroscopy (MRS) of the white matter showed an almost complete disappearance of all normal signals and the presence of glucose and lactate, compatible with the presence of mainly CSF and little brain tissue. Spectra of the cortex were much better preserved. However, in addition to the normal resonances, there were signals representing lactate and glucose. MRS of the white matter in the patient whose disease was at an early stage was much less abnormal. Autopsy in one patient confirmed the presence of extensive cystic degeneration of the cerebral white matter with reactive change and a preserved cortex. Typical involvement of pontine tegmental white matter was suggested by MRI and confirmed by autopsy. The disease probably has an autosomal recessive mode of inheritance, but the basic metabolic defect is not known.