The Turkish Journal of Pediatrics 2007 , Vol 49 , Num 3
A rare cause of neonatal seizure: incontinentia pigmenti
1Departments of Pediatrics, Adnan Menderes University Faculty of Medicine, Aydın, Turkey
2Departments of Medical Genetics, Adnan Menderes University Faculty of Medicine, Aydın, Turkey
3Departments of Dermatology, Adnan Menderes University Faculty of Medicine, Aydın, Turkey
4Departments of Pathology, Adnan Menderes University Faculty of Medicine, Aydın, Turkey
Türkmen M, Eliaçık K, Temoçin K, Şavk E, Tosun A, Dikicioğlu E. A rare cause of neonatal seizure: incontinentia pigmenti. Turk J Pediatr 2007; 49: 327-330.

Incontinentia pigmenti (IP) is a rare genetic multisystem disorder that may affect many organs including the skin, bone, eyes and the central nervous system. Central nervous system manifestations are seen in 30% of cases with seizures and mental retardation. Seizures occurring as the presenting sign of IP are rarely reported.

We report a case of a female newborn with IP who had seizures on day 4 of life, which were followed in her second month by the development of the characteristic cutaneous changes for IP. With this case report, we would like to emphasize the need for inclusion of IP in the differential diagnosis of neonatal seizures. Keywords : incontinentia pigmenti, neonatal seizures, NF-kappa B essential modulator (NEMO) gene mutation

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