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
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
How to Cite
Santangelo, L., et al., A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). BMC Nephrol, 2014. 15: p. 41.
Basiratnia, M., et al., Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia. Iran J Med Sci, 2011. 36(3): p. 222-5.
Basiratnia, M. and M.H. Fallahzadeh, Schimke immuno-osseous dysplasia. Saudi Med J, 2007. 28(3): p. 457-60.
Morimoto, M., et al., Schimke Immunoosseous Dysplasia, in GeneReviews(R), R.A. Pagon, et al., Editors. 1993-2016, University of Washington, Seattle University of Washington, Seattle. All rights reserved.: Seattle (WA).
Bakr, A., et al., Schimke immune-osseous dysplasia: A case report. Saudi J Kidney Dis Transpl, 2015. 26(5): p. 987-91.
Zieg, J., et al., Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. Pediatr Rheumatol Online J, 2011. 9(1): p. 27.
Clewing, J.M., et al., Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet, 2007. 44(2): p. 122-30.
Morimoto, M., et al., Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis, 2012. 7: p. 70.
Deguchi, K., et al., Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropathol Exp Neurol, 2008. 67(6): p. 565-77.
Camilo, O. and L.B. Goldstein, Seizures and epilepsy after ischemic stroke. Stroke, 2004. 35(7): p. 1769-75.
- Abstract Viewed: 201 times