High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: A case report

David S. Wolf; W. Christopher Golden; Julie Hoover-Fong; Carolyn Applegate; Bernard A. Cohen; Emily L. Germain-Lee; Morton F. Goldberg; Thomas O. Crawford; Estelle B. Gauda

doi:10.1177/0883073813517509

High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: A case report

David S. Wolf, W. Christopher Golden, Julie Hoover-Fong, Carolyn Applegate, Bernard A. Cohen, Emily L. Germain-Lee, Morton F. Goldberg, Thomas O. Crawford, Estelle B. Gauda

School of Medicine

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	100-106
Number of pages	7
Journal	Journal of child neurology
Volume	30
Issue number	1
DOIs	https://doi.org/10.1177/0883073813517509
State	Published - Jan 2014

Keywords

Incontinentia pigmenti
Ischemic encephalopathy
Neonatal seizures

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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10.1177/0883073813517509

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title = "High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: A case report",

abstract = "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.",

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AU - Applegate, Carolyn

AU - Cohen, Bernard A.

AU - Germain-Lee, Emily L.

AU - Goldberg, Morton F.

AU - Crawford, Thomas O.

AU - Gauda, Estelle B.

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AB - 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.

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High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: A case report

Abstract

Keywords

ASJC Scopus subject areas

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