Incontinentia Pigmenti With Neonatal Encephalopathy: A Case Report and Literature Review

Abstract

Background

Incontinentia pigmenti (IP) is an X-linked neurocutaneous disorder caused by mutations in the IKBKG gene located at the Xq28 locus. This multisystem condition is primarily diagnosed based on 4 clinical criteria, including characteristic cutaneous manifestations. Among its various complications, neurologic involvement is a major contributor to morbidity and mortality.

Case presentation

We present a neonate diagnosed with IP who developed acute neurologic complications shortly after birth. Neuroimaging revealed punctate areas of restricted diffusion with superimposed petechial hemorrhages—findings consistent with small vessel vasculopathy. Unlike the more commonly reported exon 4-10 deletion, genetic testing in this patient identified a point mutation in the IKBKG gene. Although corticosteroid therapy was not initiated immediately, it was later introduced during infancy in response to electrographic hypsarrhythmia, resulting in successful resolution. Additionally, we conducted a retrospective review of the timing of seizure onset and the use of systemic corticosteroids as reported in the literature.

Conclusion

Early clinical evaluation for central nervous system involvement is crucial in patients with IP. Given the genetic predisposition to neonatal encephalopathy and acute symptomatic seizures, symptomatic management with antiseizure medications is often required. Although no randomized clinical trials have been conducted, early immunotherapy with corticosteroids may be a viable option for managing acute neurologic complications. This report aims to promote early recognition of IP-associated neonatal encephalopathy, support timely intervention, and inform long-term follow-up strategies.