Alfadhel Majid, Yong Siu Li, Lillquist Yolanda, Langlois Sylvie
Department of Biochemical Diseases, BC Children's and Women's Hospital, Vancouver, BC, Canada.
J Child Neurol. 2011 Jul;26(7):851-7. doi: 10.1177/0883073810396582. Epub 2011 May 18.
The authors present 2 girls with progressive encephalopathy, hypsarrhythmia, and optic atrophy syndrome. They describe a novel finding, precocious puberty, a feature not previously reported in this syndrome. The authors also present their clinical features and the results of investigations, including radiological findings, and compare the patients of this report to previously reported cases.
作者报告了2例患有进行性脑病、高峰失律脑电图及视神经萎缩综合征的女童。他们描述了一个新发现,即性早熟,这是该综合征之前未曾报道过的特征。作者还介绍了她们的临床特征以及包括影像学检查结果在内的各项检查结果,并将本报告中的患者与之前报道的病例进行了比较。