Unit of Sleep Medicine, Department of Neuroscience, Catholic University, Rome, Italy.
J Clin Neurophysiol. 2011 Jun;28(3):314-8. doi: 10.1097/WNP.0b013e31821c3ad5.
Costello syndrome is a congenital disorder because of HRAS gene mutation, frequently associated with neurologic impairment and sleep disorders. The aims of the study were to evaluate the sleep EEG, and particularly the sleep spindles, in a population of patients with Costello syndrome and to compare them with those characterizing unaffected subjects. Eleven subjects (5 men and 6 women) with Costello syndrome were included in the study; age ranged between 18 months and 31 years (mean, 9.6 ± 9.4 years). The diagnosis was posed on the basis of established clinical criteria and confirmed molecularly. Sleep EEG was studied by means of full-night, laboratory-based video-polysomnography, performed overnight, during hospitalization. Sleep activity was quantified by means of power spectral analysis. Patients heterozygous for an HRAS mutation exhibited increased EEG power in 12- to 15-Hz activity band compared with age-matched control subjects. In conclusion, the authors observed a consistent increase in the amplitude of cortical sleep spindles in all our subjects with an HRAS mutation. These "giant" spindles were not associated with any evidence of structural damage of the cortex or the thalami and should be considered as phenotypic feature of sleep EEG activity in Costello syndrome because of HRAS mutation.
考斯特综合征是一种先天疾病，由于 HRAS 基因突变所致，常伴有神经损伤和睡眠障碍。本研究旨在评估考斯特综合征患者的睡眠脑电图，特别是睡眠梭形波，并与正常人群进行比较。研究纳入了 11 名考斯特综合征患者（男 5 例，女 6 例），年龄 18 个月至 31 岁（平均 9.6 ± 9.4 岁）。根据既定的临床标准诊断为考斯特综合征，并通过分子手段确认。通过在医院过夜进行全夜实验室视频多导睡眠图研究来进行睡眠脑电图研究。通过功率谱分析来量化睡眠活动。杂合 HRAS 突变的患者在 12-15Hz 活动频段的脑电图功率增加。总之，作者在所有 HRAS 突变的患者中均观察到皮质睡眠梭形波振幅的一致增加。这些“巨大”的梭形波与皮质或丘脑的任何结构损伤无关，应被视为考斯特综合征因 HRAS 突变所致的睡眠脑电图活动的表型特征。
