新生儿Netherton综合征1例

A case of neonatal Netherton syndrome

摘要:

患儿，男，6 d，因生后呼吸困难伴全身脱屑样皮疹入院。患儿主要表现为生后红斑伴脱屑样皮疹、呼吸衰竭、反复感染、慢性腹泻、高渗性脱水、生长发育迟缓，予抗感染、静脉注射免疫球蛋白、皮肤护理等综合治疗后皮疹好转，但仍存在反复感染。二代测序检测示患儿存在SPINK5基因纯合变异，系Netherton综合征的致病变异。家属放弃治疗，患儿出院后于2月龄时死亡。该文报道1例新生儿期起病的SPINK5基因变异所致的Netherton综合征病例，以及对该疾病的多学科诊疗。

Abstract:

A male infant, aged 6 days, was admitted to the hospital due to respiratory distress and systemic desquamative rash after birth. The infant presented with erythema and desquamative rash, respiratory failure, recurrent infections, chronic diarrhea, hypernatremic dehydration, and growth retardation. Comprehensive treatment, including anti-infection therapy, intravenous immunoglobulin administration, and skin care, resulted in improvement of the rash, but recurrent infections persisted. Second-generation sequencing revealed a homozygous mutation in the SPINK5 gene, consistent with the pathogenic variation of Netherton syndrome. The family opted for palliative care, and the infant died at the age of 2 months after discharge. This report documents a case of Netherton syndrome caused by the SPINK5 gene mutation in the neonatal period, and highlights multidisciplinary diagnosis and therapy for this condition.