Document Type: Case Report(s)
Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
Department of Pathology, Shiraz University of Medical Sciences, Shiraz, Iran
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.