Abstract: A 2-month-9-day-old female infant developed erythema and blisters on the second day after birth, which gradually progressed to verrucous hyperplasia and pigmentation. Recurrent convulsions presented one day prior to admission.Cranial MRI showed diffuse small patchy hyperintensities on DWI in bilateral cerebral and cerebellar hemispheres.Electroencephalography revealed multifocal epileptiform discharges.Whole-exome sequencing identified a de novo frameshift mutation in the IKBKG gene: c.1102_1109dup (p.Ala371CysfsTer83). The patient was diagnosed with incontinentia pigmenti complicated by epilepsy. This study further expands the mutation spectrum of IKBKG gene in incontinentia pigmenti.

Key words: incontinentia pigmenti, IKBKG gene, epilepsy