Non-Hodgkin Lymphoma in a Child with Schimke Immuno-Osseous Dysplasia

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.