Title of article :
Early onset cerebral infarction in Schimke immuno-osseous dysplasia: A case report
Author/Authors :
HOSSEIN BABAEI, Amir Medical Student - Student Research Committee - Shiraz University of Medical Sciences, Shiraz, Iran , INALOO, Soroor Department of Pediatric Neurology - Neonatal Research Center - Shiraz University of Medical Sciences, Shiraz, Iran , BASIRATNIA, Mitra Department of Pediatrics Nephrology - Shiraz Nephrology- Urology Research Center - Shiraz University of Medical Sciences, Shiraz, Iran Corresponding , DERAKHSHAN, Ali Department of Pediatrics Nephrology - Shiraz Nephrology- Urology Research Center - Shiraz University of Medical Sciences, Shiraz, Iran Corresponding
Abstract :
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
Keywords :
Schimke immuno-osseous dysplasia , Cerebrovascular disorders , Renal insufficiency , Nephrotic syndrome
Journal title :
Astroparticle Physics
