目的 探讨7例脑组织铁沉积神经变性病（NBIA）患儿的临床及遗传学特点。方法 利用全外显子测序技术（WES）对疑似NBIA的患儿进行遗传学检测，对WES检测阳性的患儿通过Sanger测序验证；回顾性分析患儿临床资料并进行文献复习。结果 本研究纳入7例患儿，患儿首发症状为步态障碍、姿势异常、精神运动发育迟滞或倒退等。WES检测发现7例患儿均分别携带NBIA相关的致病基因，其中PANK2基因1例、FA2H基因1例以及PLA2G6基因5例。PANK2基因异常的患儿临床表现为步态障碍及姿势异常、视网膜色素变性-苍白球变性综合征等典型的症状；FA2H异常的患儿表现为语言落后、步态异常以及肌张力障碍；PLA2G6异常的患儿起病较早，表现为发育落后、肌无力、苍白球低信号铁沉积及小脑萎缩。结论 NBIA患儿临床表型复杂且不同类型NBIA患儿临床表现存在差异，神经系统异常为最主要的临床表现。

Objective The aim of this study was to explore the clinical and genetic characteristics of 7 pediatric patients with neurodegeneration with brain iron accumulation (NBIA). Methods Genetic mutation analysis was conducted on patients suspected of having NBIA using whole exome sequencing (WES), followed by Sanger sequencing for positive cases. A retrospective analysis of the patients' clinical data was performed alongside a literature review. Results Seven patients, comprising five boys and two girls with an average age of 5.4±3.8 years, presented to the hospital primarily due to motor developmental delay. The main clinical manifestations included intellectual disability, gait disorders, abnormal posture, delayed or regressed psychomotor development, muscle weakness, cerebellar ataxia, and retinitis pigmentosa. WES identified pathogenic mutations in NBIA-related genes in all 7 patients, specifically PANK2 in one case, FA2H in one case, and PLA2G6 in five cases. Patients with PLA2G6 variations exhibited early onset, developmental delay, muscle weakness, low signal iron deposition in the pallidus, and cerebellar atrophy. The patient with a PANK2 gene mutation showed gait and postural abnormalities, while the patient with an FA2H mutation presented with language delay, gait abnormalities, and dysmyotonia. Conclusion There is significant heterogeneity in the clinical phenotype of NBIA patients, with neurological abnormalities being the predominant feature. Two previously unreported variants were identified, broadening the spectrum of genetic variations in NBIA disease.