Abstract

Incontinentia pigmenti (IP) or BlochSulzbergers disease is a rare neurocutaneous syndrome with dermatological, neurologic, and systemic manifestations including retinal, dental and hair abnormalities. It follows X-linked dominant inheritance and predominantly affects female children. The characteristic evolution of skin lesions in four stages is a hallmark diagnostic feature of the disease. The pigmented lesions of IP are usually distributed in linear streaks, macular whorls, reticulated patches, and flecks along the Blaschko lines. Neurologic morbidities are found in a considerable proportion of affected children, and the spectrum includes seizures, neuromotor impairment, microcephaly, developmental delay, and intellectual disability. Seizures are reported in 10% to 25% of children with IP in various previous clinical studies. The majority of these children had seizures in the neonatal period or early infancy, and focalclonic seizure is the commonest observed semiology. However, there are only a few case reports of infants with IP with epileptic spasms. In this report, the clinical course of a 6-month-old girl with IP and epileptic spasms has been described, who responded favorably to treatment with adrenocorticotropic hormone injection. Clinicians managing children with IP should be aware of their predisposition to develop epileptic spasms and consider neuroimaging, electroencephalogram, and other investigations accordingly.