Prato Giulia, De Grandis Elisa, Mancardi Maria Margherita, Cordani Ramona, Giacomini Thea, Pisciotta Livia, Uccella Sara, Severino Mariasavina, Tortora Domenico, Pavanello Marco, Bertamino Marta, Verrina Enrico, Caridi Gianluca, Di Rocco Maja, Nobili Lino
Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genoa, Italy.
Brain Dev. 2020 May;42(5):408-413. doi: 10.1016/j.braindev.2020.01.008. Epub 2020 Feb 27.
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.
施密克免疫性骨发育不良（SIOD）是一种常染色体隐性多系统疾病，由SMARCAL1基因的致病性变异引起。临床表现以脊椎骨骺发育不良为特征，导致生长发育迟缓、肾病和T细胞缺陷。神经系统表现包括小头畸形、认知障碍、偏头痛样头痛以及脑血管表现，如脑动脉粥样硬化性血管疾病和可逆性脑血管收缩。SMARCAL1缺乏在非血管性神经并发症中的作用仍存在争议。少数患者报告有癫痫发作，甚至在没有脑部异常的情况下也会出现。关于SIOD患者脑电图（EEG）模式的数据很少。方法：我们描述了两名无亲缘关系的SIOD患者的临床、神经放射学和脑电图检查结果，他们表现出一种特殊的假周期性脑电图模式，显然与脑血管并发症无关，因为这种模式在脑血管事件发生之前和之后都被识别出来了。结论：我们的观察结果支持以下假设，即SMARCAL1在神经发育和脑功能中起重要作用，并扩展了与SIOD相关的神经异常谱。
