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Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia

Schimke Immuno-osseous Dysplasia (SIOD) is a rare autosomal recessive disease caused by a biallelic mutation in SMARCAL1 gene. Typical findings in SIOD include spondylo-epiphyseal dysplasia, steroid resistance nephrotic syndrome, progressive renal failure, T-cell immunodeficiency, bone marrow failur...

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Autores principales: HOSSEIN BABAEI, Amir, INALOO, Soroor, BASIRATNIA, Mitra, DERAKHSHAN, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045942/
https://www.ncbi.nlm.nih.gov/pubmed/30026777
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author HOSSEIN BABAEI, Amir
INALOO, Soroor
BASIRATNIA, Mitra
DERAKHSHAN, Ali
author_facet HOSSEIN BABAEI, Amir
INALOO, Soroor
BASIRATNIA, Mitra
DERAKHSHAN, Ali
author_sort HOSSEIN BABAEI, Amir
collection PubMed
description Schimke Immuno-osseous Dysplasia (SIOD) is a rare autosomal recessive disease caused by a biallelic mutation in SMARCAL1 gene. Typical findings in SIOD include spondylo-epiphyseal dysplasia, steroid resistance nephrotic syndrome, progressive renal failure, T-cell immunodeficiency, bone marrow failure, and cerebral infarction. In this case report, we describe a 9-yr-old girl who presented with failure to thrive in infancy. Nephrotic syndrome was diagnosed at the age of four years. She had three episodes of admission with cerebral stroke due to moyamoya syndrome. In the last admission at Namazi Hospital, Shiraz, southern Iran, in October 2016, she had new cerebral ischemia, developed seizure, and finally died.
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spelling pubmed-60459422018-10-01 Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia HOSSEIN BABAEI, Amir INALOO, Soroor BASIRATNIA, Mitra DERAKHSHAN, Ali Iran J Child Neurol Case Report Schimke Immuno-osseous Dysplasia (SIOD) is a rare autosomal recessive disease caused by a biallelic mutation in SMARCAL1 gene. Typical findings in SIOD include spondylo-epiphyseal dysplasia, steroid resistance nephrotic syndrome, progressive renal failure, T-cell immunodeficiency, bone marrow failure, and cerebral infarction. In this case report, we describe a 9-yr-old girl who presented with failure to thrive in infancy. Nephrotic syndrome was diagnosed at the age of four years. She had three episodes of admission with cerebral stroke due to moyamoya syndrome. In the last admission at Namazi Hospital, Shiraz, southern Iran, in October 2016, she had new cerebral ischemia, developed seizure, and finally died. Shahid Beheshti University of Medical Sciences 2018 /pmc/articles/PMC6045942/ /pubmed/30026777 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
HOSSEIN BABAEI, Amir
INALOO, Soroor
BASIRATNIA, Mitra
DERAKHSHAN, Ali
Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia
title Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia
title_full Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia
title_fullStr Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia
title_full_unstemmed Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia
title_short Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia
title_sort early onset cerebral infarction in schimke immuno-osseous dysplasia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045942/
https://www.ncbi.nlm.nih.gov/pubmed/30026777
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