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Case Reports
. 2011 Sep;36(3):222-5.

Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia

Mitra Basiratnia  1 , Alireza Baradaran-Heravi, Majid Yavarian, Bita Geramizadeh, Mehran Karimi
Affiliations
Case Reports

Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia

Mitra Basiratnia et al. Iran J Med Sci. 2011 Sep.

Abstract

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.

Keywords: Schimke immunoosseous dysplasia; intussusception; lymphoproliferative.

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Figures

Figure 1
Figure 1
The sequences of SMARCAL1 related to Schimke immuno-osseous dysplasia (SIOD). Sequence (A), from the patient of this report exhibiting characteristics of Schimke immuno-osseous dysplasia with a homozygote AA sequence (c.1682) leading to the substitution of Arginine (CGC) at position 561 in the protein by histidine (CAC). Panels (B, C and D) show heterozygote (G/A) pattern of the same section from the patient’s parents and siblings.
Figure 2
Figure 2
Barium enema showing ileocolic intussusception in the patient with Schimke immuno-osseous dysplasia.
Figure 3
Figure 3
Sections from intestine show diffuse infiltration of intermediate –sized cells in the mucosa.
Figure 4
Figure 4
The lymphoma cells are diffusely positive for CD20.
See this image and copyright information in PMC

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