Incontinentia Pigmenti in a Newborn Male with Klinefelter Syndrome: Clinical, Electroencephalographic, and Neuroimaging Findings

Incontinentia pigmenti (IP, MIM 308300) is a rare X-linked genodermatosis that not only included well-defined dermatological features but also central nervous system abnormalities. Although IP is usually lethal in males, occurrences of the disease in boys have been reported, but phenotype has not been well characterized. We report on neurological, electroencephalographic (EEG) and neuroimaging findings in a male infant with IP and a 47, XXY karyotype.

The baby presented at birth with generalized vesiculopustular eruption and the diagnosis of IP was confirmed by skin biopsy and by IKBKG gene mutation. Chromosome analysis was consistent with the diagnosis of Klinefelter syndrome.

At 2 months of age, he experienced a convulsive status epilepticus managed with endovenous phenytoin and phenobarbital (PB). Magnetic resonance imaging revealed multiple acute phase spotty high-intensity lesions on diffusion-weighted images (DWI) involving both cerebral hemispheres, compatible with multiple cerebral infarctions.

Oral PB gave seizure control for 2 months, when he developed daily clusters of seizures characterized by eye twitching and extensor spasms of one arm lasted few seconds. EEG showed background disorganization and multifocal abnormalities with focal clinical and electrographic seizures. Carbamazepine was started but seemed ineffective, and the frequency of seizures was reduced after vigabatrin was added. In follow-up evaluation, clinical picture was characterized by severe developmental delay with poor spontaneous motility, generalized hypertonia, severe visual deficit due to bilateral retinal detachment, and poor feeding with difficulty swallowing. Due to the clinical variability of this rare condition, awareness of the association between IP and epilepsy will help to plan treatment for both conditions.