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

被引：10

作者：

Loh, Ne-Ron ^{[1
]}

Jadresic, Lyda P. ^{[1
]}

Whitelaw, Andrew ^{[2
]}

机构：

[1] Gloucestershire Royal Hosp, Gloucester GL1 3NN, England

[2] Univ Bristol, Dept Clin Sci N Bristol, Southmead Hosp, Bristol BS10 5NB, Avon, England

来源：

ACTA PAEDIATRICA | 2008年 / 97卷 / 03期

关键词：

apoptosis; incontinentia pigmenti; inflammation; NEMO mutation; neonatal encephalopathy;

D O I：

10.1111/j.1651-2227.2007.00630.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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 NF kappa B 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.

引用

页码：379 / 381

页数：3

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