A case report of a patient with Schimke Immuno-osseous dysplasia and co-morbid Moya-moya Syndrome

Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presenting with dysmorphic features, skeletal dysplasia, steroid resistance nephrotic syndrome and cellular immune insufficiency. Central nervous system complications such as Moya-moya syndrome have been reported as a co-morbidity. We describe a case study of a South African child who was diagnosed at 5 years of age. She initially presented with short stature secondary to the skeletal dysplasia. She subsequently developed Moya-moya syndrome and steroid resistant nephrotic syndrome. Genetic studies confirmed the presence of the c. 1439 C>T mutation in the SMARCAL1 protein which has been described in patients with SIOD previously. She demised at the age of 7 years from an inter-current pneumonia.