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

Schimke immuno-osseous dysplasia: A case report


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
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijn.IJN_95_18

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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.






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Indian Journal of Nephrology
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Online since 20th Sept '07