Abstract

GOVENDER, R; NAICKER, E  and  PILLAY, K. A case report of a patient with Schimke immuno-osseous dysplasia and co-morbid Moyamoya Syndrome. S. Afr. j. child health [online]. 2019, vol.13, n.3, pp.143-144. ISSN 1999-7671.  https://doi.org/10.7196/SAJCH.2019.v13i3.1636.

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 the age of 5 years. She initially presented with short stature secondary to the skeletal dysplasia. She subsequently developed Moyamoya syndrome and steroid-resistant nephrotic syndrome. Genetic studies confirmed the presence of the c.1439 C>T mutation in the SMARCAL1 gene, which has been described in patients with SIOD previously. She died at the age of 7 years from an inter-current pneumonia.

        · text in English     · English ( pdf )