High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti

A case report

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)100-106
Number of pages7
JournalJournal of Child Neurology
Volume30
Issue number1
DOIs
StatePublished - 2014

Fingerprint

Incontinentia Pigmenti
Glucocorticoids
Seizures
Mutation
Brain Diseases
Blister
Infarction
Dexamethasone
Nervous System
Therapeutics
Parturition

Keywords

  • Incontinentia pigmenti
  • Ischemic encephalopathy
  • Neonatal seizures

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

@article{2d65097390cb48b8bdef02840f2bc8b5,
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.",
keywords = "Incontinentia pigmenti, Ischemic encephalopathy, Neonatal seizures",
author = "Wolf, {David S.} and Golden, {W Christopher} and {Hoover Fong}, {Julie E} and Carolyn Applegate and Cohen, {Bernard A} and Germain-Lee, {Emily L.} and Goldberg, {Morton F} and Crawford, {Thomas Owen} and Gauda, {Estelle B}",
year = "2014",
doi = "10.1177/0883073813517509",
language = "English (US)",
volume = "30",
pages = "100--106",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "1",

}

TY - JOUR

T1 - High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti

T2 - A case report

AU - Wolf, David S.

AU - Golden, W Christopher

AU - Hoover Fong, Julie E

AU - Applegate, Carolyn

AU - Cohen, Bernard A

AU - Germain-Lee, Emily L.

AU - Goldberg, Morton F

AU - Crawford, Thomas Owen

AU - Gauda, Estelle B

PY - 2014

Y1 - 2014

N2 - 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.

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.

KW - Incontinentia pigmenti

KW - Ischemic encephalopathy

KW - Neonatal seizures

UR - http://www.scopus.com/inward/record.url?scp=84927614702&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84927614702&partnerID=8YFLogxK

U2 - 10.1177/0883073813517509

DO - 10.1177/0883073813517509

M3 - Article

VL - 30

SP - 100

EP - 106

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 1

ER -