Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature
Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature
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DOI：
10.1111/dmcn.12425
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发表时间：
2014-08-01
影响因子：
3.8
通讯作者：
Kaindl, Angela M.
中科院分区：
文献类型：
--
作者：
Von der Hagen, Maja;Pivarcsi, Mark;Kaindl, Angela M.
目的本研究的目的是评估儿童小头畸形的诊断方法，并确定各种潜在原因/疾病实体的患病率。方法我们对680例小头畸形儿童进行了回顾性研究（男399人，女281人;发病时平均年龄7- 8个月，范围1个月-5年），患者就诊于Charite - University Medicine柏林（n=474）和University Hospital Dresden（n=206）。患者出院信件进行电子检索，以确定小头畸形的情况下，然后这些患者的医疗记录被用来分析参数distribution.Results的推定病因为小头畸形被确定在59%的所有患者，留下41%没有明确的诊断。在病因明确的小头畸形队列中，约一半的患者确定了遗传原因，围产期脑损伤占45%，出生后脑损伤占3%。在65%的参与者中，小头畸形与智力障碍相关，43%的参与者被诊断为癫痫，30%的参与者被发现患有眼科疾病。脑磁共振成像显示76%的参与者异常。解释小头畸形仍然是一个定义不清的条件，一个统一的诊断方法是迫切需要的。明确的病因诊断对于预测预后和提供遗传咨询是非常重要的。确定基因突变是导致小头畸形的原因增加了我们对大脑发育和小头畸形临床谱的了解。因此，我们提出了一个标准化的初步诊断方法，小头畸形。
AIM The aim of this study was to assess the diagnostic approach to microcephaly in childhood and to identify the prevalence of the various underlying causes/disease entities.METHOD We conducted a retrospective study on a cohort of 680 children with microcephaly (399 males, 281 females; mean age at presentation 7-8mo, range 1mo-5y) from patients presenting to Charite - University Medicine Berlin (n=474) and University Hospital Dresden (n=206). Patient discharge letters were searched electronically to identify cases of microcephaly, and then the medical records of these patients were used to analyze parameters for distribution.RESULTS The putative aetiology for microcephaly was ascertained in 59% of all patients, leaving 41% without a definite diagnosis. In the cohort of pathogenetically defined microcephaly, genetic causes were identified in about half of the patients, perinatal brain damage accounted for 45%, and postnatal brain damage for 3% of the cases. Microcephaly was associated with intellectual impairment in 65% of participants, epilepsy was diagnosed in 43%, and ophthalmological disorders were found in 30%. Brain magnetic resonance imaging revealed abnormalities in 76% of participants.INTERPRETATION Microcephaly remains a poorly defined condition, and a uniform diagnostic approach is urgently needed. A definite aetiological diagnosis is important in order to predict the prognosis and offer genetic counselling. Identifying gene mutations as causes of microcephaly increases our knowledge of brain development and the clinical spectrum of microcephaly. We therefore propose a standardized initial diagnostic approach to microcephaly.