INSERM, Imagerie cérébrale et handicaps neurologiques UMR 825, Toulouse, France.
J Cereb Blood Flow Metab. 2011 Jan;31(1):275-82. doi: 10.1038/jcbfm.2010.87. Epub 2010 Jun 30.
The Prader-Willi syndrome (PWS), a rare multisystem genetic disease, leads to severe disabilities, such as morbid obesity, endocrine dysfunctions, psychiatric disorders, and social disturbances. We explored the whole brain of patients with PWS to detect abnormalities that might explain the behavioral and social disturbances, as well as the psychiatric disorders of these patients. Nine patients with PWS (six males, three females; mean age 16.4 years) underwent a positron emission tomography (PET) scan with H(2)(15)O as a tracer to measure regional cerebral blood flow (rCBF). The images were compared with those acquired from nine controls (six males, three females; mean age 21.2 years). A morphologic magnetic resonance imaging (MRI) was also performed in PWS patients, and their cognitive and behavioral skills were assessed with Wechsler Intelligence Scale for Children III and the Child Behavior Check List (CBCL). The MRI images showed no evident anatomic abnormalities, whereas PET scans revealed hypoperfused brain regions in PWS patients compared with controls, particularly in the anterior cingulum and superior temporal regions. We observed a significant relationship (P<0.05) between rCBF in the hypoperfused regions and CBCL scores. The functional consequences of these perfusion abnormalities in specific brain regions might explain the behavioral and social problems observed in these individuals.
普拉德-威利综合征（PWS）是一种罕见的多系统遗传性疾病，可导致严重残疾，如病态肥胖、内分泌功能障碍、精神障碍和社交障碍。我们探索了 PWS 患者的整个大脑，以检测可能解释这些患者的行为和社交障碍以及精神障碍的异常。9 名 PWS 患者（6 名男性，3 名女性；平均年龄 16.4 岁）接受了正电子发射断层扫描（PET）扫描，以 H（2）（15）O 作为示踪剂来测量局部脑血流（rCBF）。将图像与 9 名对照者（6 名男性，3 名女性；平均年龄 21.2 岁）获得的图像进行比较。还对 PWS 患者进行了形态磁共振成像（MRI）检查，并使用韦氏儿童智力量表 III 和儿童行为检查表（CBCL）评估了他们的认知和行为技能。MRI 图像未显示明显的解剖异常，而 PET 扫描显示 PWS 患者的大脑区域血流量减少，与对照组相比，特别是在前扣带和颞上区域。我们观察到 rCBF 与 CBCL 评分之间存在显著的相关性（P<0.05）。这些特定脑区血流异常的功能后果可能解释了这些个体中观察到的行为和社交问题。
