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

研究成果: ジャーナルへの寄稿学術論文査読

4 被引用数 (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.

ジャーナルBrain and Development
出版ステータス出版済み - 04-2021

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学


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