Case Reports

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

R Govender, E Naicker, K Pillay

Abstract


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.


Authors' affiliations

R Govender, Department of Paediatric Neurology, Department of Paediatrics and Child Health, Inkosi Albert Luthuli Central Hospital, Durban, South Africa

E Naicker, Department of Paediatric Nephrology, Department of Paediatrics and Child Health, Inkosi Albert Luthuli Central Hospital, Durban, South Africa

K Pillay, Westville Hospital, Durban, South Africa

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Cite this article

South African Journal of Child Health 2019;13(3):143-144. DOI:10.7196/SAJCH.2019.v13i3.1636

Article History

Date submitted: 2019-10-03
Date published: 2019-10-03

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