Publication:

Schimke immunoosseous dysplasia: a multisystem disorder

Schimke immunoosseous dysplasia is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and renal insufficiency. It is caused by a biallelic mutation in SMARCAL 1 gene. In this study, we described clinical and genetic diagnosis of a 5 years old girl who presented to our centre with short stature and repeated infections in the past. She had one episode of stroke in the past due to infarction and she was diagnosed with hypertension 1 year back. Last admission in the hospital, she had new stroke episode and found to have steroid resistant nephrotic syndrome.