对深圳市儿童医院2020年7月就诊的1例Joubert综合征患儿的临床表型、影像学特征及基因学结果进行回顾分析，并对相关文献进行复习总结。先证者婴儿期以呼吸异常及发育迟缓为主要表现，颅脑磁共振成像(MRI)提示"臼齿征"，符合Joubert综合征诊断。基因检测提示其携带 KIAA0586基因复合杂合变异，2个变异位点均未见文献报道，其中一个为同义突变。先证者是国内第1例 KIAA0586基因突变所致的Joubert综合征患儿。Joubert综合征是一种脑发育异常综合征，以临床表现异质性高，头颅MRI示臼齿征为其特征性表现，可累及多系统，早期识别干预对其预后有益。
The main clinical phenotypes, imaging features and genetic test results of a child with Joubert syndrome treated in Shenzhen Children′s Hospital in July 2020 were analyzed retrospectively, and the literature on Joubert syndrome was summarized.The main manifestations of the protester during infancy were respiratory abnormalities and developmental retardation.The brain magnetic resonance imaging (MRI) showed a " molar sign" , which was consistent with the diagnosis of Joubert syndrome.Genetic testing suggested that the protestor carried complex heterozygous variations of KIAA0586 gene.Two variants were not reported previously, one of which was synonymous mutation.The child is the first case of Joubert syndrome caused by KIAA0586 gene in China.Joubert syndrome is a rare congenital brain development malformation characterized by high clinical heterogeneity and MRI molar signs.It may involve multiple systems.Early identification and intervention can improve outcomes.
张会婷,刘春艳,曾琦,等. KIAA0586基因突变所致Joubert综合征1例 [J]. 中华实用儿科临床杂志,2022,37(15)：1184-1186.
DOI:10.3760/cma.j.cn101070-20210330-00378版权归中华医学会所有。
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注：MRI：磁共振成像 MRI：magnetic resonance imaging
MRI of brain in the child with Joubert syndrome A, B：the interpeduncular fossa deepens, the superior cerebellar horn lengthens and thickens, and the posterior part of the midbrain shows molar sign; C: the fourth ventricle is enlarged, has an irregular shape, and is in the shape of a " bat－wing" ；D: the cerebellar vermis is absent, showing a midline split sign张会婷：论文撰写、病例收集整理；刘春艳：提供病例、数据分析；曾琦、叶园珍、林素芳、邹东方：核准数据、数据分析、病例指导；廖建湘：研究指导、论文修改、经费支持
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