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J Child Neurol. 2015 Jan;30(1):100-6. doi: 10.1177/0883073813517509. Epub 2014 Mar 28.

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

Author information

1
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA Division of Pediatric Neurology, Emory University/Children's Healthcare of Atlanta, Atlanta, GA, USA dwolf03@emory.edu.
2
Department of Pediatrics, Eudowood Neonatal Pulmonary Division, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
3
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
4
Division of Pediatric Dermatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
5
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA Kennedy Krieger Institute, Baltimore, MD, USA Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
6
The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
7
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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

PMID:
24682289
DOI:
10.1177/0883073813517509
[Indexed for MEDLINE]
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