[A case of neonatal Netherton syndrome]. / æ°çå¿Netherton综åå¾1ä¾.
Zhongguo Dang Dai Er Ke Za Zhi
; 26(1): 103-106, 2024 Jan 15.
Article
in Zh
| MEDLINE
| ID: mdl-38269468
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Exanthema
/
Netherton Syndrome
Type of study:
Diagnostic_studies
Limits:
Humans
/
Infant
/
Male
/
Newborn
Language:
Zh
Journal:
Zhongguo Dang Dai Er Ke Za Zhi
Year:
2024
Document type:
Article