Premium
A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation
Author(s) -
Loh NeRon,
Jadresic Lyda P,
Whitelaw Andrew
Publication year - 2008
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2007.00630.x
Subject(s) - incontinentia pigmenti , medicine , encephalopathy , rash , pathology , neonatal encephalopathy , white matter , mutation , dermatology , differential diagnosis , magnetic resonance imaging , gene , genetics , biology , radiology
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.