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


CONCLUSIONS
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.
Loh
Ne-Ron
NR
Gloucester Royal Hospital, Gloucester, GL1 3NN, UK.
Jadresic
Lyda P
LP
Whitelaw
Andrew
A
D017209:Apoptosis; D001927:Brain Diseases / Q000209:etiology*; D005260:Female; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000235:genetics*; D007231:Infant, Newborn; D009154:Mutation
C491731:IKBKG protein, human; D051550:I-kappa B Kinase