Hippocampal Abnormalities in Magnetic Resonance Imaging (MRI) of 15q Duplication Syndromes
Hippocampal Abnormalities in Magnetic Resonance Imaging (MRI) of 15q Duplication Syndromes
复制标题
DOI：
10.1177/0883073814538669
复制
发表时间：
2015-03-01
影响因子：
1.9
通讯作者：
Caruso, Paul
中科院分区：
文献类型：
--
作者：
Boronat, Susana;Mehan, William A.;Caruso, Paul
具有15 q重复综合征的患者，包括等双着丝粒染色体15和间质性重复，通常表现为自闭症谱系障碍、智力残疾和常见的癫痫。这些患者的神经影像学检查通常报告为正常，但也报告了非特异性发现，如胼胝体变薄和脑周间隙增加。对在马萨诸塞州总医院Dup15q中心就诊的11名患者的脑磁共振成像（MRI）研究进行了回顾。海马形态学进行了专门审查，因为最近的神经病理学研究发现，在这些疾病频繁海马异位和发育不良。2例受试者单侧海马硬化，6例双侧海马畸形。2例受试者存在胼胝体发育不全。
Patients with 15q duplication syndromes, including isodicentric chromosome 15 and interstitial duplications, usually present with autism spectrum disorder, intellectual disability, and frequently epilepsy. Neuroimaging studies in these patients are typically reported as normal, but nonspecific findings such as thinning of the corpus callosum and increased pericerebral spaces have been reported. A review of brain magnetic resonance imaging (MRI) studies of 11 individuals seen at the Massachusetts General Hospital Dup15q Center was performed. Hippocampus morphology was specifically reviewed, as a recent neuropathologic study has found frequent hippocampal heterotopias and dysplasias in these disorders. Two subjects had unilateral hippocampal sclerosis and 6 had bilateral hippocampal malformations. Hypoplasia of the corpus callosum was present in 2 subjects.