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

NR Loh, LP Jadresic, A Whitelaw

Research output: Contribution to journalArticle (Academic Journal)peer-review

10 Citations (Scopus)

Abstract

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 NFκB essential modulator (NEMO) gene. Conclusion: 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.
Translated title of the contributionA genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation
Original languageEnglish
Pages (from-to)379 - 381
Number of pages3
JournalActa Paediatrica
Volume97 (3)
DOIs
Publication statusPublished - Mar 2008

Bibliographical note

Publisher: Blackwell

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