Document Type : Case Report(s)
Authors
1 Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
2 Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada
3 Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
4 Department of Pathology, Shiraz University of Medical Sciences, Shiraz, Iran
Abstract
Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease.
The present report describes, for the first time, a Schimke immuno-osseous dysplasia child with SMARCAL1 missense mutation (R561H) and manifestations of intussusception secondary to Epstein-Barr virus-negative non-Hodgkin lymphoma, who expired due to septicemia following chemotherapy. The report emphasizes the necessity of more limited immuno-suppressive protocols in Schimke immuno-osseous dysplasia patients with lymphoproliferative disorders.
Keywords
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