MRI Features of Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy (PADMAL)
MRI Features of Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy (PADMAL)
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DOI：
10.1111/j.1552-6569.2008.00336.x
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发表时间：
2010-04-01
影响因子：
2.4
通讯作者：
Fiehler, Jens
中科院分区：
文献类型：
--
作者：
Ding, Xiao-Qi;Hagel, Christian;Fiehler, Jens
背景与展望脑小血管疾病是科学界和老龄化社会越来越感兴趣的话题。我们报告的磁共振成像（MRI）的特点，最近发现的常染色体显性遗传microangiopathy.METHODSEighteen成员（35至77岁）的一个大的德国家庭进行了MR扫描与标准化的MRI协议脑血管疾病。影像由两名神经放射科医师独立评估，MRI显示，该家族6名成员明确表现为脑桥腔隙性梗死（6/6）和皮质下及脑室周围白色病变（5/6）的病理表型。颞叶病变（1/6）和脑微出血（1/6）不常见。所有患者的MR血管造影均未显示动脉粥样硬化改变。回顾性分析5脑尸检从以前报道的同一个家庭的患者证实了经常参与的pons. CONCLUSION这脑常染色体显性遗传性动脉病与脑桥梗死和白质脑病的特点是一个特殊的病变模式显着不同的CADASIL。脑桥病变的MRI特征和罕见的颞叶病变支持了一个新的疾病分类学实体，并可能有助于鉴别诊断。
BACKGROUND AND PURPOSECerebral small vessel disease is a topic of growing interest for both the scientific community and the aging society. We report the magnetic resonance imaging (MRI) characteristics of a recently found autosomal dominantly inherited microangiopathy.METHODSEighteen members (35 to 77 years) of a large German family underwent MR scanning with a standardized MRI protocol for cerebrovascular diseases. Images were evaluated independently by two neuroradiologists.RESULTSSix family members revealed an unequivocally pathological phenotype on MRI with lacunar infarcts of the pons (6/6) and lesions of the subcortical and periventricular white matter (5/6). Lesions in the temporal lobes (1/6) and cerebral microbleeds (1/6) were uncommon. None of the patients revealed atherosclerotic changes in MR angiography. Retrospective analysis of 5 brain autopsies from previously reported patients of the same family confirmed the regular involvement of the pons.CONCLUSIONThis cerebral autosomal dominant arteriopathy with pontine infarcts and leukoencephalopathy is characterized by a special lesion pattern strikingly different from CADASIL. The distinct MRI characteristics with pontine lesions and rare occurrence of temporal lesions argue for a new nosological entity and may be helpful for the differential diagnosis.