A case of neonatal Netherton syndrome
10.7499/j.issn.1008-8830.2307056
- VernacularTitle:新生儿Netherton综合征1例
- Author:
Yan ZHU
1
;
Si-Yuan JIANG
;
Rong ZHANG
;
Yun CAO
;
Shu-Lian ZHANG
Author Information
1. 国家儿童医学中心/复旦大学附属儿科医院新生儿科,上海 201102
- Keywords:
Netherton syndrome;
SPINK5 gene;
Rash;
Recurrent infection;
Hypertonic dehydration;
Neonate
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(1):103-106
- CountryChina
- Language:Chinese
-
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.
