Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia.
Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphyseal 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 immunosuppressive protocols in Schimke immuno-osseous dysplasia patients with lymphoproliferative disorders.
Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Mitra
M
Basiratnia
Alireza
A
Baradaran-Heravi
Majid
M
Yavarian
Bita
B
Geramizadeh
Mehran
M
Karimi
Schimke immunoosseous dysplasia; intussusception; lymphoproliferative