van der Knaap Marjo S, Naidu SakkuBai, Pouwels Petra J W, Bonavita Simona, van Coster Rudy, Lagae Lieven, Sperner Jürgen, Surtees Robert, Schiffmann Raphael, Valk Jakob
Department of Child Neurology, Free University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands.
AJNR Am J Neuroradiol. 2002 Oct;23(9):1466-74.
Leukoencephalopathies of unknown origin constitute a considerable problem in child neurology. The purpose of our ongoing study of the subject was to define new disease entities among them by using primarily MR imaging pattern recognition.
We identified seven unrelated patients with a distinct MR imaging pattern consisting of hypomyelination and atrophy of the basal ganglia (neostriatum) and cerebellum (H-ABC). We reviewed the clinical, MR imaging, MR spectroscopic, and laboratory data.
Clinically, the patients' diseases were characterized by variably disturbed early development followed by increasing extrapyramidal movement abnormalities, ataxia, and spasticity. Mental capacity was variably affected, but it appeared to be relatively preserved. Parents were not related, and none of their siblings were affected. No metabolic defect was found. Follow-up MR imaging demonstrated atrophy of the cerebral white matter, neostriatum, and cerebellum, which was most pronounced in the most clinically severe cases. Single-voxel proton MR spectroscopic results were normal in the parietal cortex. In the cerebral white matter, myo-inositol and creatine levels were elevated; this finding was compatible with gliosis. N-acetylaspartate and choline levels were normal, suggesting that neither axonal loss nor active demyelination occurred. Proton MR spectroscopic imaging revealed relatively decreased N-acetylaspartate levels in the frontal region.
The uniform and highly characteristic MR imaging findings, in combination with the similarities in the clinical findings, provide evidence of a distinct nosologic entity. The acronym H-ABC is offered to indicate patients sharing these clinical and MR imaging features.
病因不明的白质脑病是儿童神经病学中一个相当棘手的问题。我们正在进行的关于该主题的研究目的是主要通过磁共振成像模式识别来确定其中新的疾病实体。
我们确定了7例无亲缘关系的患者，其具有独特的磁共振成像模式，包括基底神经节（新纹状体）和小脑的髓鞘形成不足及萎缩（H-ABC）。我们回顾了临床、磁共振成像、磁共振波谱及实验室数据。
临床上，患者疾病的特征为早期发育不同程度受损，随后锥体外系运动异常、共济失调和痉挛加重。智力不同程度受影响，但似乎相对保留。父母无亲缘关系，其兄弟姐妹均未患病。未发现代谢缺陷。随访磁共振成像显示脑白质、新纹状体和小脑萎缩，在临床症状最严重的病例中最为明显。顶叶皮质的单体素质子磁共振波谱结果正常。在脑白质中，肌醇和肌酸水平升高；这一发现与胶质增生相符。N-乙酰天门冬氨酸和胆碱水平正常，表明既未发生轴突丢失也未发生活动性脱髓鞘。质子磁共振波谱成像显示额叶区域N-乙酰天门冬氨酸水平相对降低。
一致且高度特征性的磁共振成像表现，结合临床发现的相似性，为一种独特的疾病实体提供了证据。提出首字母缩写词H-ABC来表示具有这些临床和磁共振成像特征的患者。
