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.

中文翻译：

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色素失禁患者迟发性脑动脉病

背景技术色素失禁（IP）是一种X连锁神经皮肤疾病，可在婴儿早期出现脑动脉病。然而，以前没有报道显示 IP 患者在婴儿期后儿童期有动脉病变表现。患者描述 我们描述了一个 2 岁女孩的 IP 病例，该女孩出现与甲型流感感染相关的脑病表现。她提出了涉及皮质、皮质下白质、胼胝体、基底神经节和丘脑的弥漫性磁共振成像异常，类似于以前文献中报道的早期婴儿病例的发现。磁共振血管造影显示脑动脉衰减。脑脊液中促炎细胞因子和趋化因子上调。在动脉病表现缓解后，左侧偏瘫仍然存在。遗传分析揭示了 IKBKG 基因中的一种新型突变。结论 我们的研究结果表明，IP 患者即使在婴儿早期也可能发生破坏性脑动脉病。我们的患者与先前报道的婴儿患者之间磁共振成像异常的相似性可以通过 IP 的潜在免疫病理生理学来解释。