PT -期刊文章盟莉莲火腿AU -劳拉Segala盟吉娜Norato AU - Michael Gregory AU -艾莉森·博伊斯盟马里兰Pao AU -迈克尔·柯林斯盟TI -约瑟夫·雪的认知表现型McCune-Albright综合症:一个案例系列(p2.1 - 021) DP - 2019年4月09年TA -神经病学第六PG - p2.1 - 021 - 92 IP - 15补充4099 - //www.ez-admanager.com/content/92/15_supplement/p2.1 021. - 021.短4100 - h首页ttp://www.ez-admanager.com/content/92/15_supplement/p2.1 - -全所以Neurology2019 4月09年;92 AB -目的:描述成人McCune-Albright综合征的认知能力(MAS)的患者还接受神经影像学研究(MRI和/或CT)。背景:马斯是一种罕见的遗传性疾病由体细胞玲娜基因的激活突变引起的,表现为纤维发育不良,单方面的浅褐色的皮肤色素沉着、内分泌病。纤维组织异常增生不同的组织和参与程度的影响,但往往是单方面的,经常影响到头盖骨。颅畸形可能导致局部脑损伤以及头痛和癫痫发作。尽管MAS的潜在神经效应,没有研究描述这些病人的神经心理功能。设计/方法:29马斯成人患者(86.2%右旋)参加完成自然历史研究神经心理评估和神经影像学(颅的纤维发育不良:nleft = 6, nright = 4, nbilateral = 18日nnone = 1;侧脑室扩大:nleft = 5, nright = 1, nbilateral = 4, nnone = 18)。结果:患者平均智商97.9 (SD = 14.8)。更多的病人有异常的大脑左边比右边。一个一个示例Wilcoxon符号秩检验显示差异显著提高语言和非语言单项成绩在两个方向WAIS-IV智力量表相对规范的样本(V = 318.5, p = .009)。 Individuals affected by bilateral cranial fibrous dysplasia and/or enlarged ventricles generally performed worse on measures of IQ than those who were unilaterally-affected regardless of the extent of the lesions.Conclusions: Most patients did not exhibit marked cognitive impairment, although 17.2% of patients had IQs more than 1 SD below the mean (<85). Patients with bilateral brain abnormalities exhibited lower IQ than those with unilateral involvement. The rate of WAIS-IV verbal-nonverbal discrepancy in adult MAS patients was significantly higher than in the general population, suggesting possible lateralization of brain involvement. Future research should investigate the correlation between affected side and specific cognitive deficits in MAS as well as the possible role of plasticity during brain development.Disclosure: Dr. Ham has nothing to disclose. Dr. Segala has nothing to disclose. Dr. Norato has nothing to disclose. Dr. Gregory has nothing to disclose. Dr. Boyce has nothing to disclose. Dr. Pao has nothing to disclose. Dr. Collins has nothing to disclose. Dr. Snow has nothing to disclose.

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