van der Knaap M S, Barth P G, Gabreëls F J, Franzoni E, Begeer J H, Stroink H, Rotteveel J J, Valk J
Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
Neurology. 1997 Apr;48(4):845-55. doi: 10.1212/wnl.48.4.845.
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 results 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.
根据临床和MRI检查结果，我们确定了9名患有相似类型白质脑病的儿童。这些患者包括3对患病的兄弟姐妹。年龄范围为3至19岁。疾病始于儿童期，病程呈慢性进行性和发作性。感染和轻度头部外伤后会出现病情恶化，可导致不明原因的昏迷。8例晚期疾病患者的MRI显示弥漫性大脑半球白质脑病，所有脉冲序列上异常白质区域不断增加，其信号强度接近脑脊液。1例疾病早期患者，初始MRI显示大脑白质弥漫性异常，仅在后期达到脑脊液的信号特征。在疾病晚期患者中，白质磁共振波谱（MRS）显示所有正常信号几乎完全消失，出现葡萄糖和乳酸，这与主要为脑脊液且脑组织很少的情况相符。皮质的波谱保存得要好得多。然而，除了正常共振外，还有代表乳酸和葡萄糖的信号。疾病早期患者的白质MRS异常程度要小得多。1例患者的尸检证实存在广泛的脑白质囊性变性伴反应性改变，皮质保存。MRI提示脑桥被盖部白质有典型受累，尸检证实。该病可能为常染色体隐性遗传模式，但基本代谢缺陷尚不清楚。
