Bostantjopoulou S, Katsarou Z, Michelakaki H, Kazis A
3rd Department of Neurology, University of Thessaloniki, Greece.
Acta Neurol Scand. 2000 Sep;102(3):192-5. doi: 10.1034/j.1600-0404.2000.102003192.x.
We describe 2 patients with epilepsy as an early manifestation of late onset metachromatic leukodystrophy (MLD).
The first patient presented with epileptic seizures at the age of 34 years while neurological and cognitive abnormalities appeared later. MRI findings were compatible with leukodystrophy and low levels of arylsulphatase-A activity confirmed MLD. The second patient developed epileptic seizures and behavioral disturbances at the age of 19 years. She remained stable and seizure free for 8 years. Afterwards she developed uncontrolled epileptic seizures and status epilepticus as well as neurological and cognitive impairment. Leukodystrophy was diagnosed by MRI findings and low levels of arylsulphatase-A activity were compatible with MLD.
Our 2 cases postulate that epileptic seizures may be an early and prominent manifestation of late onset MLD.
我们描述了2例癫痫作为晚发性异染性脑白质营养不良（MLD）早期表现的患者。
首例患者34岁时出现癫痫发作，随后出现神经和认知异常。MRI表现符合脑白质营养不良，芳基硫酸酯酶 - A活性水平低确诊为MLD。第二例患者19岁时出现癫痫发作和行为障碍。她在8年里病情稳定且无癫痫发作。之后她出现了无法控制的癫痫发作和癫痫持续状态以及神经和认知障碍。通过MRI表现诊断为脑白质营养不良，芳基硫酸酯酶 - A活性水平低符合MLD。
我们的2例病例表明癫痫发作可能是晚发性MLD的早期且突出的表现。
