A rare cause of neonatal seizure: incontinentia pigmenti.
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.
Türkmen
Münevver
M
Department of Pediatrics, Adnan Menderes University Faculty of Medicine, Aydin, Turkey.
Eliaçik
Kayi
K
Temoçin
Kübra
K
Savk
Ekin
E
Tosun
Ayşe
A
Dikicioğlu
Emel
E
D005260:Female; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D007231:Infant, Newborn; D009154:Mutation; D012640:Seizures / Q000209:etiology*
C491731:IKBKG protein, human; D051550:I-kappa B Kinase