Department of Pediatric Neurology, Ankara University Faculty of Medicine, Mamak, 06590, Ankara, RI, Turkey.
Childs Nerv Syst. 2021 Sep;37(9):2931-2934. doi: 10.1007/s00381-021-05083-1. Epub 2021 Feb 13.
Hypomelanosis of Ito is a rare heterogeneous neurocutaneous disorder often associated with central nervous and musculoskeletal system involvement. Herein, we report the first case of hypomelanosis of Ito in the literature presenting with unilateral dilation of Virchow-Robin spaces (VRS). A girl aged 16 years old presented with a 1-year history of headache. Her physical and neurological examinations were normal, except for the presence of unilateral cutaneous macular hypopigmented whorls and streaks on lower side of the right trunk and lower limb, termed as Blaschko's lines. She had mild deficits in cognitive and adaptive functioning. Hearing, renal, dental, ophthalmologic, metabolic, and cardiac assessments were normal. Brain magnetic resonance imaging (MRI) showed markedly unilateral hemispheric enlarged VRS without contrast enhancement and diffusion restriction. To the best of our knowledge, our case is the first report describing the unilateral hemispheric enlarged VRS in a patient with hypomelanosis of Ito. Our report suggested that hypomelanosis of Ito may have unilateral dilation of VRS in brain MRI.
伊藤氏黑素减少症是一种罕见的异质性神经皮肤疾病,常伴有中枢神经系统和肌肉骨骼系统受累。本文报告了首例文献报道的以单侧脉络丛间隙(VRS)扩张为表现的伊藤氏黑素减少症。患者为 16 岁女孩,头痛病史 1 年。其体格检查和神经系统检查除右侧躯干和下肢下部单侧皮肤斑片状色素减退的涡旋和条纹(称为 Blaschko 线)外,均正常。认知和适应功能轻度受损。听力、肾脏、牙齿、眼科、代谢和心脏评估均正常。颅脑磁共振成像(MRI)显示明显单侧半球性 VRS 扩大,无增强和弥散受限。据我们所知,我们的病例是首例描述伊藤氏黑素减少症患者单侧半球性 VRS 扩大的报告。我们的报告提示伊藤氏黑素减少症可能在颅脑 MRI 上有单侧 VRS 扩张。