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

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 i...

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Published in:Brain & development (Tokyo. 1979) 2020-05, Vol.42 (5), p.408-413
Main Authors: 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
Format: Article
Language:English
Subjects:
Arteriosclerosis - genetics
Arteriosclerosis - physiopathology
Brain - physiopathology
Brain MRI
Cerebral atherosclerotic vascular disease
Child
DNA Helicases - genetics
Electroencephalography
Epilepsy
Female
Humans
Mutation
Nephrotic Syndrome - genetics
Nephrotic Syndrome - physiopathology
Osteochondrodysplasias - genetics
Osteochondrodysplasias - physiopathology
Phenotype
Primary Immunodeficiency Diseases - genetics
Primary Immunodeficiency Diseases - physiopathology
Pseudoperiodic EEG
Pulmonary Embolism - genetics
Pulmonary Embolism - physiopathology
Reversible cerebral vasoconstriction
Schimke Immuno-Osseous Dysplasia
Young Adult
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Summary: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 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 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.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2020.01.008