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

Area of Science:

• Genetics
• Neurology
• Dermatology

Background:

• Incontinentia Pigmenti (IP) is an X-linked disorder affecting multiple systems, primarily diagnosed by clinical criteria including skin manifestations.
• Neurologic complications significantly contribute to IP's morbidity and mortality.
• Mutations in the IKBKG gene at Xq28 cause IP.

Purpose of the Study:

• To present a case of neonatal Incontinentia Pigmenti with acute neurologic complications.
• To investigate the role of IKBKG gene mutations, specifically a point mutation, in IP pathogenesis.
• To review the timing of seizure onset and corticosteroid use in IP patients.

Main Methods:

• Case presentation of a neonate diagnosed with IP.
• Neuroimaging to identify neurologic complications.
• Genetic testing to identify the specific IKBKG gene mutation.
• Retrospective literature review on seizure onset and corticosteroid therapy.

Main Results:

• The patient presented with acute neurologic complications, including findings consistent with small vessel vasculopathy.
• Genetic testing revealed a point mutation in the IKBKG gene, distinct from common deletions.
• Corticosteroid therapy initiated later in infancy successfully resolved electrographic hypsarrhythmia.

Conclusions:

• Early evaluation for central nervous system involvement in IP is critical.
• Neonatal encephalopathy and seizures are common in IP, requiring symptomatic management.
• Early immunotherapy with corticosteroids may be a beneficial option for acute neurologic complications in IP.