Incontinentia Pigmenti in a Newborn with NEMO Mutation

被引：5

作者：

Lee, Young ^{[1
]}

Kim, Sooyeon ^{[1
]}

Kim, Kyunghee ^{[2
]}

Chang, Meayoung ^{[2
]}

机构：

[1] Chungnam Natl Univ, Dept Dermatol, Sch Med, Taejon, South Korea

[2] Chungnam Natl Univ, Dept Pediat, Sch Med, Taejon, South Korea

来源：

JOURNAL OF KOREAN MEDICAL SCIENCE | 2011年 / 26卷 / 02期

关键词：

Incontinentia Pigmenti; NEMO Protein; Brain Infarction; Seizures; Infant; Newborn; REARRANGEMENT; MOSAICISM;

D O I：

10.3346/jkms.2011.26.2.308

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-kappa B essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and subsequent encephalomalacia as well as brain atrophy. Skin biopsy found it was consistent with the vesicular stage of P. Genetic analysis revealed a deletion exon 4-10 in NEMO gene associated with P. We hereby report a Korean female baby with IP confirmed by mutation analysis of NEMO gene.

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收藏

页码：308 / 311

页数：4

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