Schimke immunoosseous dysplasia is a rare autosomal recessive multisystemic disorder, caused by mutations in swi/snf-related matrix associated actyin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL 1) characterized by spondyloepiphyseal dysplasia, growth retardation, defective cellular immunity, steroid resistant nephrotic syndrome with progressive renal insufficiency and specific phenotype. Schimke immunoosseous dysplasia have a high incidence of thyroid dysfunction and atherosclerotic disease with cerebral ischemia. Patients affected by this syndrome are marked by a severe growth deficit caused by osseous dysplasia. We describe a boy with characteristic symptoms of Schimke immunoosseous dysplasia who presented with nephrotic syndrome, growth retardation, specific phenotype and renal biopsy findings.
Keywords: Schimke syndrome, steroid resistant nephrotic syndrome, focal segmental glomerulosclerosis, cerebral infarct, spondyloepiphyseal dysplasia