Epilepsy Associated with Incontinentia Pigmenti

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.