van der Knaap M S, Kamphorst W, Barth P G, Kraaijeveld C L, Gut E, Valk J
Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
Neurology. 1998 Aug;51(2):540-7. doi: 10.1212/wnl.51.2.540.
The objective of this study is to describe milder and later onset variants of a recently described leukoencephalopathy with vanishing white matter.
The diagnostic criteria used currently for this disease include an early-childhood onset of neurologic deterioration.
Clinical, MRI, and spectroscopic findings of five patients were reviewed who fulfilled all inclusion criteria for the disease of vanishing white matter, apart from the age at onset. In one patient histopathologic findings were documented.
Onset of the disease was in late childhood or adolescence in four patients, and one patient was still presymptomatic in his early twenties. The course of the disease tended to be milder than in the patients with early-childhood onset. MRI revealed a diffuse cerebral hemispheric leukoencephalopathy with evidence of white matter rarefaction. MRS of the abnormal white matter showed a serious decrease but not complete disappearance of all "normal" signals and, in some patients, the presence of extra signals from lactate and glucose. Changes in relative spectral peak heights were compatible with axonal damage or loss, but not with active demyelination or substantial gliosis. Autopsy in one patient confirmed the extensive rarefaction of the cerebral white matter. There was a commensurate loss of axons and myelin sheaths. Within the brainstem, pontine lesions were present, also involving the central tegmental tracts--a phenomenon previously described in early-onset patients.
Later onset does occur in the disease of vanishing white matter, and both MRS and histopathology are compatible with a primary axonopathy rather than primary demyelination.
本研究旨在描述一种最近报道的伴脑白质消失的白质脑病的较轻和较晚发病的变异型。
目前用于该疾病的诊断标准包括儿童早期出现神经功能恶化。
回顾了5例患者的临床、MRI和光谱学检查结果，这些患者除发病年龄外，均符合脑白质消失疾病的所有纳入标准。其中1例患者有组织病理学检查结果记录。
4例患者发病于儿童晚期或青春期，1例患者在20岁出头时仍无症状。该疾病的病程往往比儿童早期发病的患者更为轻微。MRI显示弥漫性大脑半球白质脑病，有脑白质稀疏的证据。异常白质的磁共振波谱显示所有“正常”信号严重减少但未完全消失，在一些患者中，还存在来自乳酸和葡萄糖的额外信号。相对光谱峰高的变化与轴突损伤或丢失相符，但与活动性脱髓鞘或大量胶质细胞增生不符。1例患者的尸检证实脑白质广泛稀疏。轴突和髓鞘相应减少。在脑干内，存在脑桥病变，也累及中央被盖束——这一现象先前在早发患者中已有描述。
脑白质消失疾病确实会出现较晚发病的情况，并且磁共振波谱和组织病理学均与原发性轴突病而非原发性脱髓鞘相符。
