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一例X染色体四体综合征所致嗜睡症经药物治疗后病情改善的病例报告。

A case report of hypersomnia in tetrasomy X improved with medical therapy.

作者信息

Jayaraman Dilip, Carvalho Karen S, Hasbani Daphne M

机构信息

St. Christopher's Hospital for Children 160 East Erie Avenue Philadelphia Pennsylvania 19134.

Present address: Department of Neurology Einstein Medical Center 5401 Old York Road, Klein Building, Suite 404 Philadelphia Pennsylvania 19141.

出版信息

Clin Case Rep. 2018 Mar 22;6(5):893-895. doi: 10.1002/ccr3.1440. eCollection 2018 May.

DOI:10.1002/ccr3.1440
PMID:29744081
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5930223/
Abstract

Tetrasomy X is a rare chromosomal anomaly in which sleep disorders have not been previously reported. We report on one patient with tetrasomy X and hypersomnia successfully treated with psychostimulant therapy. Sleep disorders are rarely reported in chromosomal anomalies. Clinicians should screen patients for sleep disorders and manage them appropriately.

摘要

X染色体四体综合征是一种罕见的染色体异常疾病，此前尚未有关于其睡眠障碍的报道。我们报告了一例患有X染色体四体综合征且伴有发作性睡病的患者，该患者通过精神振奋剂治疗获得了成功。染色体异常中很少有睡眠障碍的报道。临床医生应筛查患者是否存在睡眠障碍并进行适当管理。

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