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.
authors.affiliation: 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.
authors.forename: David S
authors.initials: DS
authors.lastname: Wolf
authors.affiliation: Department of Pediatrics, Eudowood Neonatal Pulmonary Division, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: W Christopher
authors.initials: WC
authors.lastname: Golden
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Julie
authors.initials: J
authors.lastname: Hoover-Fong
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Carolyn
authors.initials: C
authors.lastname: Applegate
authors.affiliation: Division of Pediatric Dermatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Bernard A
authors.initials: BA
authors.lastname: Cohen
authors.affiliation: 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.
authors.forename: Emily L
authors.initials: EL
authors.lastname: Germain-Lee
authors.affiliation: The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Morton F
authors.initials: MF
authors.lastname: Goldberg
authors.affiliation: Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Thomas O
authors.initials: TO
authors.lastname: Crawford
authors.affiliation: Department of Pediatrics, Eudowood Neonatal Pulmonary Division, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Estelle B
authors.initials: EB
authors.lastname: Gauda
mesh_terms: D038524:Diffusion Magnetic Resonance Imaging; D005192:Family Health; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use*; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics; D007184:Incontinentia Pigmenti / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D007231:Infant, Newborn; D018810:Magnetic Resonance Angiography; D008297:Male; D009154:Mutation / Q000235:genetics; D012640:Seizures / Q000188:drug therapy* / Q000209:etiology*; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D005938:Glucocorticoids; C491731:IKBKG protein, human; D051550:I-kappa B Kinase
keywords: incontinentia pigmenti; ischemic encephalopathy; neonatal seizures