Early onset cerebral infarction in Schimke immuno-osseous dysplasia: A case report
Iranian Journal of Child Neurology,
Vol. 12 No. 3 (2018),
26 June 2018
,
Page 126-132
https://doi.org/10.22037/ijcn.v12i3.16085
Abstract
Schimke Immuno-Osseous Dysplasia is a rare autosomal recessive disease caused by a biallelic mutation in SMARCAL1 gene. Typical findings in Schimke Immuno-Osseous Dysplasia 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 described a 9-year-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, she had new cerebral ischemia, developed seizure, and finally died.
- Schimke immuno-osseous dysplasia
- Cerebrovascular disorders
- renal insufficiency
- Nephrotic syndrome
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References
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