INTRODUCTION Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture is characterized by spondyloepiphyseal dysplasia resulting in growth failure, nephropathy and T-cell deficiency. Neurologic manifestations include microcephaly, cognitive impairment, migraine-like headaches and cerebrovascular manifestations such as cerebral atherosclerotic vascular disease and reversible cerebral vasoconstriction. The role of SMARCAL1 deficiency in non-vascular neurological complications is still under debate. Epilepsy has been reported in a few patients, even in the absence of brain abnormalities. Data regarding electroencephalographic (EEG) patterns in SIOD are scarce METHODS: We describe the clinical, neuroradiological and EEG findings in two unrelated patients with SIOD showing a peculiar pseudo-periodic EEG pattern apparently not related to the cerebrovascular complications, since it was recognized both before and after cerebrovascular events CONCLUSION: Our observations support the hypothesis that SMARCAL1plays an important role in neurodevelopment and brain function and expand the spectrum of neurological abnormalities related to SIOD.

中文翻译：

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Schimke 免疫性骨发育不良，两例具有特殊脑电图模式的新病例

简介 Schimke 免疫骨发育不良 (SIOD) 是一种常染色体隐性多系统疾病，由基因 SMARCAL1 中的致病变异引起。临床表现的特征是脊椎骨骺发育不良，导致生长障碍、肾病和 T 细胞缺乏。神经系统表现包括小头畸形、认知障碍、偏头痛样头痛和脑血管表现，例如脑动脉粥样硬化性血管疾病和可逆性脑血管收缩。SMARCAL1 缺陷在非血管神经系统并发症中的作用仍在争论中。少数患者报告了癫痫，即使没有大脑异常。关于 SIOD 脑电图 (EEG) 模式的数据很少