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

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/24682289
Author: 
Gauda EB
Author List: 
Wolf DS
Golden WC
Hoover-Fong J
Applegate C
Cohen BA
Germain-Lee EL
Goldberg MF
Crawford TO
Gauda EB
Journal: 
J Child Neurol
PubMed ID: 
24682289
Pagination: 
100-6
Volume: 
30
Issue: 
1
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.
Published Date: 
January, 2015

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