Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern

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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.

Original languageEnglish
Pages (from-to)408-413
Number of pages6
JournalBrain and Development
Issue number5
Publication statusPublished - May 2020


  • Arteriosclerosis/genetics
  • Brain/physiopathology
  • Child
  • DNA Helicases/genetics
  • Electroencephalography
  • Female
  • Humans
  • Mutation
  • Nephrotic Syndrome/genetics
  • Osteochondrodysplasias/genetics
  • Phenotype
  • Primary Immunodeficiency Diseases/genetics
  • Pulmonary Embolism/genetics
  • Young Adult


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