Schimke immuno-osseous dysplasia (SIOD) is an uncommon autosomal recessive (AR) spondylo-epiphyseal dysplasia (SED) and its clinical course and phenotype are yet to be properly described. The phenotypic presentation is quite varied with involvement of the renal, skeletal, vascular, immune, and hematopoietic systems being the most common presentation. We describe a 19-year-old female who presented with adolescent-onset brain and skeletal involvement without renal manifestations. Based on imaging and clinical features, she was diagnosed with a case of SIOD. There is no definitive treatment yet for this disorder, however, clinicians should be aware of this disorder so that adequate counseling and symptomatic management, especially in controlling hypertension and dyslipidemia, can be provided to the affected patients.
Keywords: moya-moya disease; schimke immuno-osseous dysplasia (siod); smarcal1; spondylo-epiphyseal dysplasia (sed); stroke.
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