講演情報
[PE4-3]弾性線維性仮性黄色腫における脳小血管病の臨床的特徴
○安藤 昭一朗1, 上村 昌寛1, 北原 匠1, 本間 温2, 相澤 仁志3, 岩永 聰4, 室田 浩之4, 小野寺 理1 (1.新潟大学 脳研究所 脳神経内科, 2.公立昭和病院 脳神経内科, 3.東京医科大学 神経学分野, 4.長崎大学大学院 医歯薬学総合研究科 皮膚病態学分野)
【Objectives】 Cerebral small vessel disease (cSVD) is the prevalent cause of dementia and gait disturbance in the elderly. Recent study indicated that genetic factors are associated with cSVD irrespective of vascular risk factors. Pseudoxanthoma elasticum (PXE) is one of the hereditary metabolic diseases caused by mutation in ATP binding cassette subfamily C member 6 (ABCC6) gene. PXE patients also suffer from cSVD, however, clinical features remain unknown. This study aims to investigate the clinical characteristics of cSVD in PXE. 【Methods】 Three PXE patients with cSVD were enrolled. We reviewed the clinical characteristics and the findings of brain magnetic resonance imaging (MRI). The pathogenicity of ABCC6 mutations in these patients was evaluated by previous reports. 【Results】 Identified mutations in ABCC6 were as follows: homozygous p.Met848fs mutation (n=1) and compound heterozygous p.Trp14Ter+p.Met848fs (n=1) and p.Gln378Ter+p.Leu1313fs mutation (n=1). The mean age of onset was 35.3±12.3 years old. Moderate or severe leukoencephalopathy in addition to lacunar infarction was found in all patients. Cerebral microbleeds were also found in two patients. However, anterior temporal lesions (ATLs) were absent. 【Conclusions】 cSVD of PXE is characterized by early-onset leukoencephalopathy. However, other characteristic findings such as ATLs were absent. These results suggest that genetic tests of ABCC6 should be considered for patients with early-onset leukoencephalopathy.