Article
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.
Brain & development - 1 May 2020
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
Abstract excerpt
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...
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