Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
Department of Neuroradiology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
Mult Scler. 2017 Oct;23(11):1558-1561. doi: 10.1177/1352458517702550. Epub 2017 Apr 12.
Severe cognitive dysfunction is a frequent feature of multiple sclerosis (MS), normally associated with later stages of the disease in adult population. Nevertheless, progressive cognitive and neuropsychiatric disturbances might rarely be the presenting and predominant symptom. In order to better characterize this peculiar phenotype of MS, we report on the case of a 38-year-old man who referred to our hospital with the suspect of hereditary leukodystrophy after 5 years of behavioral and mood abnormalities, global cognitive dysfunction, clumsiness, and very mild pyramidal and cerebellar signs. Brain and spinal magnetic resonance imaging (MRI) combined with cerebrospinal fluid (CSF) analysis prompted the diagnosis of MS.
严重认知功能障碍是多发性硬化症（MS）的常见特征，通常与成年人群疾病的后期阶段相关。然而，进行性认知和神经精神障碍可能很少是首发和主要症状。为了更好地描述 MS 的这种特殊表型，我们报告了一例 38 岁男性病例，该患者在出现行为和情绪异常、全面认知功能障碍、笨拙、非常轻微的锥体束和小脑体征 5 年后因遗传性脑白质营养不良可疑而就诊于我院。脑部和脊髓磁共振成像（MRI）结合脑脊液（CSF）分析提示 MS 的诊断。
