患儿，女，11 d，因生后呼吸困难11 d入院，临床主要表现为吸气性呼吸困难、喂养困难，伴特殊面容（小下颌、高腭弓、腭裂、舌后坠和口角向右侧歪斜），初步诊断皮罗序列征。治疗上给予呼吸机辅助通气、营养、手术结扎动脉导管等治疗后无明显好转。家系全外显子组测序示CHD7基因存在杂合变异c.3082A>G（p.Ile1028 Val），系CHARGE综合征的致病性变异。患儿最终诊断为CHARGE综合征，家属考虑预后不良而放弃治疗。该文报道1例新生儿期起病的CHD7基因变异所致CHARGE综合征病例，以及对该疾病的多学科诊疗，有助于早期疾病识别和指导临床决策。
Abstract
A female infant, aged 11 days, was admitted due to dyspnea for 11 days after birth, with the main clinical manifestations of inspiratory dyspnea, feeding difficulties, and unusual facies (micrognathia, high palatal arch, cleft palate, glossoptosis, and oblique mouth to the right), and the preliminary diagnosis was Pierre-Robin syndrome. There was no marked improvement after treatment such as ventilator-assisted ventilation, nutrition, and surgical ligation of patent ductus arteriosus. Whole-exome sequencing of the family showed a heterozygous mutation of c.3082A>G (p.Ile1028 Val) in the CHD7 gene, which was a pathogenic mutation of CHARGE syndrome. The neonate was ultimately diagnosed with CHARGE syndrome, and the family decided to withdraw treatment due to concerns about poor prognosis. This article reports a case of CHARGE syndrome caused by a mutation in the CHD7 gene and the multidisciplinary diagnosis and treatment of this disease, in order to provide help for early disease identification and guide clinical decision-making.
关键词
CHARGE综合征 /
CHD7基因 /
皮罗序列征 /
新生儿
Key words
CHARGE syndrome /
CHD7 gene /
Pierre-Robin syndrome /
Neonate
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