Smith-Magenis Syndrome With West Syndrome in a 5-Year-Old Girl: A Long-Term Follow-Up Study
Smith-Magenis Syndrome With West Syndrome in a 5-Year-Old Girl: A Long-Term Follow-Up Study
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DOI：
10.1177/0883073808330186
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发表时间：
2009-07-01
影响因子：
1.9
通讯作者：
Tsuchiya, Shigeru
中科院分区：
文献类型：
--
作者：
Hino-Fukuyo, Naomi;Haginoya, Kazuhiro;Tsuchiya, Shigeru
史密斯-马吉尼斯综合征的特征是染色体区域17 p11杂合缺失引起的多发性先天性异常和智力低下。2我们对一名患有史密斯-马吉尼斯综合征和韦斯特综合征的女孩进行了一项长期随访研究。West综合征在7月龄时变得明显。从那时起，智力迟钝，特别是在语言发展方面，变得越来越明显。经过一个疗程的促肾上腺皮质激素治疗后，患者的痉挛和心律失常消失，但在3岁零3个月时再次出现局灶性癫痫发作。她的颅面畸形和精神发育迟滞变得越来越明显相比，她的条件在发作的西方综合征。染色体分析检测到特征性的17 p缺失，然后通过荧光原位杂交分析确认。这是第二例Smith-Magenis综合征和West综合征患者的报告;综合起来，这些结果表明Smith-Magenis综合征可能是West综合征的进一步原因。
Smith-Magenis syndromic is characterized by multiple congenital anomalies and mental retardation caused by the heterozygous deletion of chromosomal region 17p11.2 We present a long-term follow-up study of a girl with Smith-Magenis syndrome and West syndrome. West syndrome became apparent at 7 months of age. Since then, mental retardation, particularly in terms of language development, became increasingly more obvious. The patient's spasms and hypsarrhythmia disappeared after it Course of adrenocorticotropic hormone therapy, but focal seizures reappeared at the age of 3 years and 3 months. Her craniofacial dysmorphia and mental retardation became increasingly evident compared to her condition at the onset of West syndrome. Chromosome analysis detected the characteristic 17p deletion, which was then confirmed via fluorescent in situ hybridization analysis. This is the second report of a patient with Smith-Magenis syndrome and West syndrome; taken together, these results Suggest that Smith-Magenis syndrome may be a further Cause of West syndrome.