Article
A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation.
Acta paediatrica (Oslo, Norway : 1992) - 1 Mar 2008
Loh Ne-Ron, Jadresic Lyda P, Whitelaw Andrew
Abstract excerpt
UNLABELLED: 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. CONCLUSION: The mechanism of...
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