Sarah B Mulkey1, Raghu H Ramakrishnaiah2, Tonya M Balmakund3. 1. Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas. Electronic address: MulkeySarah@uams.edu. 2. Department of Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas. 3. Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Abstract
BACKGROUND: Incontinentia pigmenti is a rare X-linked neurocutaneous disorder that can present in the neonatal period with seizures and encephalopathy. Brain magnetic resonance imaging and magnetic resonance angiography may reveal cerebral infarction and arteriopathy. PATIENT DESCRIPTION: We describe a neonate with the typical rash of incontinentia pigmenti along with seizures and brain magnetic resonance imaging abnormalities. RESULTS: Brain magnetic resonance imaging, magnetic resonance angiography, and magnetic resonance spectroscopy at age one week revealed chronic and acute brain injury, arteriopathy of the small and medium-sized cerebral vessels, and elevation of a lactate metabolite peak. By age six months, her magnetic resonance angiogram had normalized. At age 2.5 years, she has well-controlled complex partial seizures, global developmental delay, and residual hemiplegia. CONCLUSION: Despite extensive cerebral arteriopathy in association with incontinentia pigmenti, this girl had a relatively stable early clinical course, steady developmental progress over time, and seizures that have been well controlled. Later brain imaging revealed resolution of the arteriopathy.
BACKGROUND:Incontinentia pigmenti is a rare X-linked neurocutaneous disorder that can present in the neonatal period with seizures and encephalopathy. Brain magnetic resonance imaging and magnetic resonance angiography may reveal cerebral infarction and arteriopathy. PATIENT DESCRIPTION: We describe a neonate with the typical rash of incontinentia pigmenti along with seizures and brain magnetic resonance imaging abnormalities. RESULTS: Brain magnetic resonance imaging, magnetic resonance angiography, and magnetic resonance spectroscopy at age one week revealed chronic and acute brain injury, arteriopathy of the small and medium-sized cerebral vessels, and elevation of a lactate metabolite peak. By age six months, her magnetic resonance angiogram had normalized. At age 2.5 years, she has well-controlled complex partial seizures, global developmental delay, and residual hemiplegia. CONCLUSION: Despite extensive cerebral arteriopathy in association with incontinentia pigmenti, this girl had a relatively stable early clinical course, steady developmental progress over time, and seizures that have been well controlled. Later brain imaging revealed resolution of the arteriopathy.
Authors: Nicole I Wolf; Nikola Krämer; Inga Harting; Angelika Seitz; Friedrich Ebinger; Johannes Pöschl; Dietz Rating Journal: AJNR Am J Neuroradiol Date: 2005 Jun-Jul Impact factor: 3.825
Authors: Femke Maingay-de Groof; Maarten H Lequin; Daniella W Roofthooft; Arnold P Oranje; Irenaeus F de Coo; Levinus A Bok; Peter J van der Spek; Grazia M Mancini; Paul P Govaert Journal: Eur J Paediatr Neurol Date: 2007-10-22 Impact factor: 3.140