小头畸形、淋巴水肿、脉络膜视网膜病变及房间隔缺损：一例病例报告并文献复习
Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature.
作者信息
Eventov-Friedman Smadar, Singer Amihood, Shinwell Eric S
机构信息
Department of Neonatology, Kaplan Medical Center, Rehovot and Hebrew University, Jerusalem, Israel.
出版信息
Acta Paediatr. 2009 Apr;98(4):758-9. doi: 10.1111/j.1651-2227.2008.01161.x. Epub 2008 Dec 11.
BACKGROUND
The rare congenital combination of microcephaly, lymphedema and chorioretinopathy (MLCD) has been described. Recently, three cases with these clinical characteristics have been diagnosed as having, in addition, various congenital cardiac anomalies, which may be part of this genetic entity that presents with variable expression.
CLINICAL OBSERVATION
Here we present a new case of a one-year-old infant who was born with microcephaly and lymphedema and atrial septal defect (ASD) and developed chorioretinopathy at the age of 6 months. This infant had normal neurodevelopment at one year of age.
CONCLUSION
We recommend that cardiac evaluation and long-term ophthalmologic follow-up should be part of the evaluation in each child born with microcephaly and lymphedema. Family counseling should include the fact that normal to near-normal development may be possible, despite the presence of microcephaly.
背景
小头畸形、淋巴水肿和脉络膜视网膜病变（MLCD）这种罕见的先天性综合征已被描述。最近，有3例具有这些临床特征的病例被诊断还患有各种先天性心脏异常，这可能是这种具有可变表达的遗传实体的一部分。
临床观察
我们在此报告1例1岁婴儿的新病例，该婴儿出生时即患有小头畸形、淋巴水肿和房间隔缺损（ASD），并在6个月大时出现脉络膜视网膜病变。该婴儿1岁时神经发育正常。
结论
我们建议，对于每例出生时患有小头畸形和淋巴水肿的儿童，心脏评估和长期眼科随访应作为评估的一部分。家庭咨询应包括这样一个事实，即尽管存在小头畸形，但正常至接近正常的发育仍有可能。
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