Liu Wei-Na, Pi Ya-Lei, Bai Xing-Yu, Chen Hui-Fen
Department of Neonatology, Fourth Hospital of Shijiazhuang, Shijiazhuang 050000, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2025 Mar 15;27(3):373-376. doi: 10.7499/j.issn.1008-8830.2409076.
The patient is a male neonate born at term. He was admitted 16 minutes after birth due to stridor and inspiratory respiratory distress. Physical examination revealed a cleft palate, and a grade II systolic ejection murmur was audible at the left sternal border. Whole exome sequencing identified a heterozygous variant in the gene, c.5753-5756del (p.Val1918GlufsTer87), which was absent in either parent, indicating a mutation. According to the guidelines of the American College of Medical Genetics and Genomics, this was classified as a "pathogenic variant" leading to a diagnosis of Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome. Upon admission, symptomatic supportive treatment was provided. Follow-up at the age of 8 months revealed persistent stridor; the infant could only consume small amounts of milk and was unable to sit steadily. This patient represents the youngest reported case to date, and his symptoms expand the clinical spectrum of the disease, providing valuable insights for clinical diagnosis and treatment.
该患者为足月出生的男性新生儿。他在出生后16分钟因喘鸣和吸气性呼吸窘迫入院。体格检查发现腭裂，在左胸骨缘可闻及II级收缩期喷射性杂音。全外显子组测序在该基因中鉴定出一个杂合变异，c.5753 - 5756del（p.Val1918GlufsTer87），其父母双方均未携带，提示为新发突变。根据美国医学遗传学与基因组学学会的指南，这被分类为“致病变异”，从而导致诊断为朱 - 户田 - 竹乃内 - 金（ZTTK）综合征。入院时给予了对症支持治疗。8个月大时的随访显示喘鸣持续存在；婴儿只能少量进食牛奶，且无法稳定坐立。该患者是迄今为止报道的最年轻病例，其症状扩展了该疾病的临床谱，为临床诊断和治疗提供了有价值的见解。
