2026 年第 8 期 第 21 卷

O′Donnell-Luria-Rodan综合征1例并文献复习

O′Donnell-Luria-Rodan syndrome: a case report and literature review

作者：陈孝华1张楠2刘秀琴2

英文作者：Chen Xiaohua1 Zhang Nan2 Liu Xiuqin2

单位：1山东第二医科大学临床医学院，潍坊261053；2山东省青岛市市立医院儿科，青岛266071

英文单位：1School of Clinical Medicine Shandong Second Medical University Weifang 261053 China; 2Department of Pediatrics Qingdao Municipal Hospital Shandong Province Qingdao 266071 China

关键词：O′Donnell-Luria-Rodan综合征；赖氨酸甲基转移酶2E基因；基因突变；生长发育迟缓；孤独症

英文关键词：O′Donnell-Luria-Rodansyndrome;Lysinemethyltransferase2Egene;Genemutation;Growthretardation;Autismspectrumdisorder

• 摘要：

• O′Donnell-Luria-Rodan(ODLURO)综合征是由赖氨酸甲基转移酶2E（KMT2E）基因突变引发的常染色体显性遗传病。本文报道1例山东省青岛市市立医院就诊的ODLURO综合征患儿的诊疗经过，并复习相关文献。患儿核心临床特征包括生长发育迟缓、孤独症、癫痫等，初始诊断川崎病，给予丙种球蛋白、阿司匹林治疗后病情恢复。住院期间评估患儿存在生长发育落后及孤独症，完善基因检测显示KMT2E基因存在c.4829dup 杂合突变，根据指南，该变异判定为致病性变异。国内尚少见该突变位点相关报道；对于生长发育迟缓合并孤独症的患儿，建议尽早行基因检测明确诊断，通过针对性对症治疗与早期干预改善预后。

• O′Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant genetic disorder caused by mutations in the lysine methyltransferase 2E gene (KMT2E). This article reports the diagnosis and treatment process of a child with ODLURO syndrome admitted to Qingdao Municipal Hospital, Shandong Province, and reviews relevant literature. The core clinical features of the child included growth retardation, autism spectrum disorder, and epilepsy. The initial diagnosis was Kawasaki disease, and the condition improved after treatment with intravenous immunoglobulin and aspirin. During hospitalization, the child was assessed to have growth retardation and autism spectrum disorder. Further genetic testing revealed a heterozygous c.4829dup mutation in the KMT2E gene, which was classified as a pathogenic variant according to guidelines. Reports of this mutation site are rare in China. For children with growth retardation combined with autism spectrum disorder, early genetic testing is recommended to confirm the diagnosis, and targeted symptomatic treatment and early intervention can improve prognosis.