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Journal of Pediatric Epilepsy 2016; 05(02): 089-096
DOI: 10.1055/s-0035-1570068
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Epilepsy Associated with Incontinentia Pigmenti

Nadia El Malhany
1   Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
,
Marta Elena Santarone
1   Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
,
Caterina Cerminara
1   Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
,
Paolo Curatolo
1   Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
› Author Affiliations
Further Information

Publication History

18 February 2015

21 February 2015

Publication Date:
08 December 2015 (online)

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Abstract

Incontinentia pigmenti (IP) is an uncommon neurocutaneous syndrome characterized by skin lesions, ocular abnormalities, and central nervous system (CNS) involvement. Mutations in IKBKG gene were discovered as a cause of IP. The most frequent neurologic manifestations are seizures, usually observed in the first week, and sometimes in the first year of life or in childhood. The most frequent types of presenting seizures are partial clonic or generalized seizures. Epilepsy usually showed a good prognosis in most patients with a good response to treatment. However, in some patients a more severe epilepsy related to various degree of CNS involvement can occur. Clinicians should pay special attention to cutaneous signs of IP in infants presenting with neonatal seizures.

Keywords

incontinentia pigmenti - neurocutaneous disease - epilepsy - seizures - brain - neurology - treatment - neuroimaging
 

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