TY - JOUR
T1 - Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern
AU - Prato, Giulia
AU - De Grandis, Elisa
AU - Mancardi, Maria Margherita
AU - Cordani, Ramona
AU - Giacomini, Thea
AU - Pisciotta, Livia
AU - Uccella, Sara
AU - Severino, Mariasavina
AU - Tortora, Domenico
AU - Pavanello, Marco
AU - Bertamino, Marta
AU - Verrina, Enrico
AU - Caridi, Gianluca
AU - Di Rocco, Maja
AU - Nobili, Lino
N1 - Copyright © 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
PY - 2020/5
Y1 - 2020/5
N2 - 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.
AB - 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.
KW - Arteriosclerosis/genetics
KW - Brain/physiopathology
KW - Child
KW - DNA Helicases/genetics
KW - Electroencephalography
KW - Female
KW - Humans
KW - Mutation
KW - Nephrotic Syndrome/genetics
KW - Osteochondrodysplasias/genetics
KW - Phenotype
KW - Primary Immunodeficiency Diseases/genetics
KW - Pulmonary Embolism/genetics
KW - Young Adult
U2 - 10.1016/j.braindev.2020.01.008
DO - 10.1016/j.braindev.2020.01.008
M3 - Article
C2 - 32115305
VL - 42
SP - 408
EP - 413
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 5
ER -