Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic

Abstract

Background: Schimke immunoosseous dysplasia (SIOD) is an ultra-rare inherited disease affecting many organ systems. Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid resistant nephrotic syndrome are the main symptoms of this disease.

Case presentation: We aimed to characterize the clinical, pathological and genetic features of SIOD patients received at tertiary Pediatric Nephrology Center, University Hospital Motol, Prague, Czech Republic during the period 2001-2021. The mean age at diagnosis was 21 months (range 18-48 months). All patients presented with growth failure, nephropathy and immunodeficiency. Infections and neurologic complications were present in most of the affected children during the course of the disease.

Conclusions: Although SIOD is a disease characterized by specific features, the individual phenotype may differ. Neurologic signs can severely affect the quality of life; the view on the management of SIOD is not uniform. Currently, new therapeutic methods are required.

Keywords: Case series; Chronic kidney disease; Nephropathy; Schimke immunoosseous dysplasia; Transient ischemic attacks; Transplantation.

Fig. 1

Magnetic resonance angiography imaging for case 1. The image shows bilateral stenosis of the anterior cerebral arteries and right middle cerebral artery

Fig. 2

Lateral spine radiograph for case 2 showing prominent thoracic kyphosis and generalized vertebral flattening

Fig. 3

Anterioposterior hip radiograph for case 3 showing laterally displaced femoral capital epiphyses, poorly formed acetabula

Fig. 4

Magnetic resonance angiography for case 3. The image depicts occlusive disease filling both internal carotid arteries and both middle cerebral arteries