Moore B D, Slopis J M, Jackson E F, De Winter A E, Leeds N E
Division of Pediatrics, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.
Neurology. 2000 Feb 22;54(4):914-20. doi: 10.1212/wnl.54.4.914.
To determine characteristics of brain morphology in children and adolescents with neurofibromatosis type 1 and relate these characteristics to neuropsychological functioning.
Neurofibromatosis type 1 is associated with numerous CNS abnormalities and cognitive impairment. Abnormal high signal intensity visible on brain MRI, brain tumors, and macrocephaly are common. Research into links between neuroanatomic and cognitive features has been inconclusive.
Fifty-two children and adolescents with neurofibromatosis type 1 were compared with 19 control subjects on several quantitative neuroanatomic and neuropsychological measures.
Total brain volume, especially gray matter, was significantly greater for neurofibromatosis type 1 subjects than the control subjects. Group differences in the ratio of gray matter to white matter were more prominent in younger than in older subjects. Volume of gray matter in the subjects with neurofibromatosis type 1 was related to their degree of learning disability. Corpus callosum size was significantly larger for subjects in the neurofibromatosis type 1 group, and diminished performance on measures of academic achievement and visual-spatial and motor skills were associated with greater regional corpus callosum size.
Neuroanatomic morphology and the developmental pattern of gray matter and white matter in subjects with neurofibromatosis type 1 differed from in control subjects. Some of these differences are related to the neuropsychological status of the neurofibromatosis type 1 group. We propose that delayed developmental apoptosis results in macrocephaly and a delay in the development of appropriate neuronal connections in children with neurofibromatosis type 1. We further propose that these morphologic delays are related to the cognitive profile of neurofibromatosis type 1.
确定1型神经纤维瘤病儿童和青少年的脑形态特征，并将这些特征与神经心理功能联系起来。
1型神经纤维瘤病与众多中枢神经系统异常和认知障碍相关。脑磁共振成像上可见的异常高信号强度、脑肿瘤和巨头畸形很常见。关于神经解剖学特征与认知特征之间联系的研究尚无定论。
对52名1型神经纤维瘤病儿童和青少年与19名对照受试者进行了多项定量神经解剖学和神经心理学测量比较。
1型神经纤维瘤病受试者的全脑体积，尤其是灰质，显著大于对照受试者。灰质与白质比例的组间差异在较年轻受试者中比在较年长受试者中更显著。1型神经纤维瘤病受试者的灰质体积与他们的学习障碍程度相关。1型神经纤维瘤病组受试者的胼胝体尺寸显著更大，学业成绩以及视觉空间和运动技能测量表现的下降与更大的胼胝体区域尺寸相关。
1型神经纤维瘤病受试者的神经解剖形态以及灰质和白质的发育模式与对照受试者不同。其中一些差异与1型神经纤维瘤病组的神经心理状态有关。我们提出，发育性凋亡延迟导致1型神经纤维瘤病儿童出现巨头畸形以及适当神经元连接发育延迟。我们进一步提出，这些形态学延迟与1型神经纤维瘤病的认知概况有关。
