A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation

Autor:	Ne-Ron, Loh, Lyda P, Jadresic, Andrew, Whitelaw
Rok vydání:	2008
Předmět:	Brain Diseases Mutation Infant Newborn Humans Apoptosis Female Incontinentia Pigmenti I-kappa B Kinase
Zdroj:	Acta paediatrica (Oslo, Norway : 1992). 97(3)
ISSN:	0803-5253
Popis:	Incontinentia pigmenti (IP) is not generally recognized as a cause of neonatal encephalopathy. A full-term infant developed a rash and encephalopathy with lesions in the basal ganglia and periventricular white matter 3 days after a normal delivery. Typical skin changes of IP were confirmed by histology and mutation analysis of the NFkappaB essential modulator (NEMO) gene.The mechanism of brain injury appears to be increased apoptosis after inflammation and this condition should be included in differential diagnosis of neonatal encephalopathy if skin lesions are present.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::360fc8ad1fee01bd936462ca35c74fc3 https://pubmed.ncbi.nlm.nih.gov/18241293 Zobrazit plný text záznamu Plný text