PDF(Pubmed)
Abstract：
BACKGROUND: Ogden syndrome is an exceptionally rare X-linked disease caused by mutations in the NAA10 gene. Reported cases of this syndrome are approximately 20 children and are associated with facial dysmorphism, growth delay, developmental disorders, congenital heart disease, and arrhythmia.
METHODS: We present the clinical profile of a 3-year-old girl with Ogden syndrome carrying a de novo NAA10 variant [NM_003491:c.247C>T, p.(Arg83Cys)]. During infancy, she exhibited features such as left ventricular hypertrophy, protruding eyeballs, and facial deformities.
METHODS: Clinical diagnosis included Ogden syndrome, congenital heart disease (obstructive hypertrophic cardiomyopathy, left ventricular outflow tract obstruction, mitral valve disease, tricuspid valve regurgitation), tonsillar and adenoidal hypertrophy, and speech and language delay.
METHODS: The girl was considered to have hypertrophic cardiomyopathy (HCM) and received oral metoprolol as a treatment for HCM at our hospital. The drug treatment effect was not ideal, and her hypertrophy myocardial symptoms were aggravated and she had to be hospitalized for surgery.
RESULTS: The girl underwent a modified Morrow procedure under cardiopulmonary bypass and experienced a favorable postoperative recovery. No pulmonary infections or significant complications were observed during this period. The patient\'s family expressed satisfaction with the treatment process.
CONCLUSIONS: The case emphasizes the HCM of Odgen syndrome, and early surgery should be performed if drug treatment is ineffective.
METHODS: We present the clinical profile of a 3-year-old girl with Ogden syndrome carrying a de novo NAA10 variant [NM_003491:c.247C>T, p.(Arg83Cys)]. During infancy, she exhibited features such as left ventricular hypertrophy, protruding eyeballs, and facial deformities.
METHODS: Clinical diagnosis included Ogden syndrome, congenital heart disease (obstructive hypertrophic cardiomyopathy, left ventricular outflow tract obstruction, mitral valve disease, tricuspid valve regurgitation), tonsillar and adenoidal hypertrophy, and speech and language delay.
METHODS: The girl was considered to have hypertrophic cardiomyopathy (HCM) and received oral metoprolol as a treatment for HCM at our hospital. The drug treatment effect was not ideal, and her hypertrophy myocardial symptoms were aggravated and she had to be hospitalized for surgery.
RESULTS: The girl underwent a modified Morrow procedure under cardiopulmonary bypass and experienced a favorable postoperative recovery. No pulmonary infections or significant complications were observed during this period. The patient\'s family expressed satisfaction with the treatment process.
CONCLUSIONS: The case emphasizes the HCM of Odgen syndrome, and early surgery should be performed if drug treatment is ineffective.
摘要：
背景：奥格登综合征是一种由NAA10基因突变引起的极为罕见的X连锁疾病。该综合征的报告病例约为20名儿童，并与面部畸形有关，生长延迟，发育障碍,先天性心脏病,和心律不齐。
方法：我们介绍了一名患有Ogden综合征的3岁女孩的临床特征，该女孩患有从头NAA10变体[NM_003491：c.247C>T，p.(Arg83Cys)]。在婴儿期,她表现出左心室肥厚等特征，突出的眼球，和面部畸形。
方法：临床诊断包括奥格登综合征，先天性心脏病（阻塞性肥厚型心肌病，左心室流出道梗阻,二尖瓣疾病,三尖瓣返流)，扁桃体和腺样体肥大，语言和语言延迟。
方法：该女孩被认为患有肥厚型心肌病（HCM），并在我院接受口服美托洛尔治疗HCM。药物治疗效果不理想,心肌肥厚症状加重，不得不住院手术。
结果：该女孩在体外循环下接受了改良的Morrow手术，术后恢复良好。在此期间未观察到肺部感染或重大并发症。患者家属对治疗过程表示满意。
结论：该案例强调了Odgen综合征的HCM，如果药物治疗无效，应进行早期手术。
方法：我们介绍了一名患有Ogden综合征的3岁女孩的临床特征，该女孩患有从头NAA10变体[NM_003491：c.247C>T，p.(Arg83Cys)]。在婴儿期,她表现出左心室肥厚等特征，突出的眼球，和面部畸形。
方法：临床诊断包括奥格登综合征，先天性心脏病（阻塞性肥厚型心肌病，左心室流出道梗阻,二尖瓣疾病,三尖瓣返流)，扁桃体和腺样体肥大，语言和语言延迟。
方法：该女孩被认为患有肥厚型心肌病（HCM），并在我院接受口服美托洛尔治疗HCM。药物治疗效果不理想,心肌肥厚症状加重，不得不住院手术。
结果：该女孩在体外循环下接受了改良的Morrow手术，术后恢复良好。在此期间未观察到肺部感染或重大并发症。患者家属对治疗过程表示满意。
结论：该案例强调了Odgen综合征的HCM，如果药物治疗无效，应进行早期手术。
