IntroductionLIG4 syndrome is a rare autosomal recessive disorder caused by mutations in the LIG4 gene, which encodes a key enzyme in the non-homologous end joining (NHEJ) DNA repair pathway [1.2]. The syndrome is characterized by microcephaly, developmental delay, immunodeficiency, radiosensitivity, and increased susceptibility to malignancies. Due to its diverse clinical manifestations, diagnosing LIG4 syndrome, especially in neonates, poses significant challenges. Early diagnosis and comprehensive management are essential for improving outcomes in affected patients.