A Case of Schimke Immunoosseous Dysplasia, Hemophilia C andHyperlipoproteinemia (a)

Abstract

Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include: short stature with hyperpigmented macules and an unusual face. It is also characterized by proteinuria with progressive renal failure, lymphopenia (Mainly T cells) with recurrent infections, and cerebral ischemia. Perinatally, Newborns with this disease may as well have intrauterine growth retardation (IUGR), short stature with short neck and trunk. SIOD is a genetic disorder is due to a mutation in the SMARCAL1 gene (SW1/SNF2-related, matrixassociated, actin-dependent regulator of chromatin, subfamily a-like1). The presented report describes a patient with SIOD associated with Hemophilia C (Factor XI deficiency) as well as Hypolipoproteinemia a. No other similar cases have been reported in the literature. As patient has increased risk of bleeding because of Hemophilia C, he is also at risk for thrombosis because of Hyperlipoproteinmeia and SIOD. Therefore, this case report reviews SIOD, and emphasizes the rareness of this condition and the even rarer combination of associated Hemophilia C and High lipoprotein levels.