脉络膜视网膜发育异常、积水性无脑畸形和颅内钙化：假TORCH综合征还是一种新综合征？
Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome?
作者信息
Watts P, Kumar N, Ganesh A, Sastry P, Pilz D, Levin A V, Chitayat D
机构信息
Department of Ophthalmology, University Hospital Wales, Cardiff, UK.
出版信息
Eye (Lond). 2008 May;22(5):730-3. doi: 10.1038/sj.eye.6703058. Epub 2007 Dec 14.
PURPOSE
To report the association of severe chorioretinal dysplasia, hydranencephaly, microcephaly, and intracranial calcification in children with no evidence of intrauterine infections.
METHODS
Two unrelated female infants with visually inattentive behaviour, hydranencephaly, and intracranial calcification were referred for an ophthalmological opinion.
RESULTS
The fundus examination and computerised tomograms (CT scans) of head were similar in both children. There was bilateral extensive chorioretinal dysplasia, intracranial calcifications, and hydranencephaly. Serology was negative for acquired intrauterine congenital infections.
CONCLUSIONS
We report two cases that may represent a new syndrome or the more severe end of the spectrum of the pseudo-TORCH (toxoplasma, rubella, cytomegalovirus, and herpes simplex) syndrome. The association of chorioretinal dysplasia with the pseudo-TORCH syndrome has not been reported previously.
目的
报告在无宫内感染证据的儿童中，严重脉络膜视网膜发育异常、积水性无脑、小头畸形和颅内钙化之间的关联。
方法
两名无亲缘关系的女婴，有视觉注意力不集中行为、积水性无脑和颅内钙化，被转诊以征求眼科意见。
结果
两名儿童的眼底检查和头部计算机断层扫描（CT扫描）结果相似。均存在双侧广泛脉络膜视网膜发育异常、颅内钙化和积水性无脑。血清学检查显示后天性宫内先天性感染为阴性。
结论
我们报告了两例病例，可能代表一种新综合征或伪TORCH（弓形虫、风疹、巨细胞病毒和单纯疱疹病毒）综合征谱系中更严重的一端。脉络膜视网膜发育异常与伪TORCH综合征的关联此前未见报道。
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