Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti

Sotaro Kanai, Tohru Okanishi, Miki Kawai, Go Yoshino, Yoshiko Tsubouchi, Yoko Nishimura, Hiroshi Sakuma, Hiroki Kurahashi, Yoshihiro Maegaki

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


Background: Incontinentia pigmenti (IP) is an X-linked neurocutaneous disorder that can present with cerebral arteriopathy during early infancy. However, no previous reports have demonstrated arteriopathic manifestations during postinfantile childhood in patients with IP. Patient description: We describe a case of IP in a 2-year-old girl who developed encephalopathic manifestations associated with influenza A infection. She presented diffuse magnetic resonance imaging abnormalities involving the cortices, subcortical white matter, corpus callosum, basal ganglia, and thalami, resembling the findings in early infantile cases reported in the previous literatures. Magnetic resonance angiography demonstrated attenuation of the cerebral arteries. Proinflammatory cytokines and chemokines were upregulated in the cerebrospinal fluid. Left hemiplegia remained following the remission of the arteriopathic manifestations. Genetic analyses revealed a novel type of mutation in the IKBKG gene. Conclusion: Our findings indicate that patients with IP can develop destructive cerebral arteriopathy even after early infancy. The similarities in magnetic resonance imaging abnormalities between our patient and the previously reported infantile patients may be explained by the underlying immunologic pathophysiology of IP.

Original languageEnglish
Pages (from-to)580-584
Number of pages5
JournalBrain and Development
Issue number4
Publication statusPublished - 04-2021

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology


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