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 contribution||A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation|
|Pages (from-to)||379 - 381|
|Number of pages||3|
|Publication status||Published - Mar 2008|