Childhood-Onset Multiple Sclerosis With Progressive Dementia and Pathological Cortical Demyelination
Childhood-Onset Multiple Sclerosis With Progressive Dementia and Pathological Cortical Demyelination
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DOI：
10.1001/archneurol.2011.50
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发表时间：
2011-04-01
影响因子：
--
通讯作者：
Lucchinetti, Claudia F.
中科院分区：
文献类型：
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作者：
Bunyan, Reem F.;Popescu, Bogdan F. Gh.;Lucchinetti, Claudia F.
目的：描述1例儿童起病的进行性多发性硬化症合并痴呆，脑活检标本有广泛皮质脱髓鞘的证据。设计：病例报告。地点：明尼苏达州罗切斯特市梅奥诊所。患者：26岁，男性，13岁开始有行为改变史，继而进行性痴呆。干预：神经学检查，磁共振成像，脑脊液研究，神经心理测试，脑活检。结果：磁共振成像扫描显示大量T2加权高信号遍及整个中枢神经系统，与对比增强无关。脑活检标本显示皮质和皮质下脱髓鞘。所有三种类型的皮质脱髓鞘病变都被观察到：白质皮质、皮质内和软膜下。损伤与深层次的小胶质细胞激活有关。尽管尝试了多发性硬化症的疾病调节疗法，患者仍继续进展。结论：多发性硬化症应该被考虑在儿童和年轻人进行性痴呆的诊断中。皮质脱髓鞘可能是多发性硬化症痴呆患者认知功能下降的原因之一。
Objective: To describe a case of childhood-onset progressive multiple sclerosis with dementia and evidence of extensive cortical demyelination from brain biopsy specimen.Design: Case report.Setting: Mayo Clinic, Rochester, Minnesota.Patient: A 26-year-old man with a history of behavioral changes starting at the age of 13 years followed by progressive dementia.Interventions: Neurological examination, magnetic resonance imaging, cerebrospinal fluid studies, neuropsychological testing, and brain biopsy.Results: Magnetic resonance imaging scans showed numerous T2-weighted hyperintensities throughout the central nervous system not associated with contrast enhancement. Brain biopsy specimens showed cortical and subcortical demyelination. All 3 types of cortical demyelinating lesions were observed: leukocortical, intracortical, and subpial. Lesions were associated with profound microglial activation. The patient continued to progress despite attempts to treat with multiple sclerosis disease-modifying therapies.Conclusions: Multiple sclerosis should be considered in the diagnosis of progressive dementia in children and young adults. Cortical demyelination may contribute to cognitive decline in patients with dementia due to multiple sclerosis.