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Year : 2019  |  Volume : 29  |  Issue : 4  |  Page : 291--294

Schimke immuno-osseous dysplasia: A case report

Amir Hossein Babaei1, Soroor Inaloo2, Mitra Basiratnia3 
1 Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran
2 Paediatric Neurologist, Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
3 Paediatric Nephrologist, Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

Correspondence Address:
Dr. Mitra Basiratnia
Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz
Iran

Schimke immuno-osseous dysplasia (SIOD) is a rare inherited disease characterized by steroid resistant nephrotic syndrome, spondyloepiphyseal dysplasia, and T-cell immunodeficiency. Focal segmental glomerulosclerosis (FSGS) is the most frequent renal pathological finding associated with proteinuria in SIOD. In this case report, we describe a 4.5-year-old boy who presented with nephrotic syndrome and ventricular septal defect followed by tremor in the limbs after-cerebral infarction. It is emphasized that SIOD should be considered in children with wide range of presentation, from growth retardation, steroid resistant nephrotic syndrome, and bone, cardiac, and neurological abnormalities in the late childhood or even adolescence.

How to cite this article:
Babaei AH, Inaloo S, Basiratnia M. Schimke immuno-osseous dysplasia: A case report.Indian J Nephrol 2019;29:291-294

How to cite this URL:
Babaei AH, Inaloo S, Basiratnia M. Schimke immuno-osseous dysplasia: A case report. Indian J Nephrol [serial online] 2019 [cited 2021 Jul 27 ];29:291-294
Available from: https://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2019;volume=29;issue=4;spage=291;epage=294;aulast=Babaei;type=0