High-Dose Glucocorticoid Therapy in the Management of Seizures in Neonatal Incontinentia Pigmenti: A Case Report

被引：15

作者：

Wolf, David S. ^{[1
,2
]}

Golden, W. Christopher ^{[3
]}

Hoover-Fong, Julie ^{[4
]}

Applegate, Carolyn ^{[4
]}

Cohen, Bernard A. ^{[5
]}

Germain-Lee, Emily L. ^{[4
,6
,7
]}

Goldberg, Morton F. ^{[8
]}

Crawford, Thomas O. ^{[1
]}

Gauda, Estelle B. ^{[3
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[2] Emory Univ, Childrens Healthcare Atlanta, Div Pediat Neurol, Atlanta, GA 30324 USA

[3] Johns Hopkins Univ, Sch Med, Dept Pediat, Eudowood Neonatal Pulm Div, Baltimore, MD 21205 USA

[4] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA

[5] Johns Hopkins Univ, Sch Med, Div Pediat Dermatol, Baltimore, MD USA

[6] Kennedy Krieger Inst, Baltimore, MD USA

[7] Johns Hopkins Univ, Sch Med, Div Pediat Endocrinol, Baltimore, MD USA

[8] Johns Hopkins Univ, Sch Med, Wilmer Eye Inst, Baltimore, MD 21205 USA

来源：

JOURNAL OF CHILD NEUROLOGY | 2015年 / 30卷 / 01期

关键词：

incontinentia pigmenti; neonatal seizures; ischemic encephalopathy; ENCEPHALOPATHY; CORTISOL; LOCUS; BIRTH; TERM;

D O I：

10.1177/0883073813517509

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Incontinentia pigmenti is an X-linked dominant disorder resulting from a mutation of IKBKG. This disorder has a classic dermatologic presentation, but neurologic involvement, with seizures and cortical infarction, can arise shortly after birth. There are no specific therapies available for the manifestations of incontinentia pigmenti. Here, we describe the clinical, electrographic, and neuroradiologic effect of systemic glucocorticoid therapy in a neonate with incontinentia pigmenti manifesting an epileptic encephalopathy. Treatment with dexamethasone led to a dramatic reduction in seizure activity and improvement in bullous lesions. A novel mutation in IKBKG is also reported.

引用

页码：100 / 106

页数：7

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