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Cerebral complications in Schimke immuno-osseous dysplasia
B Schmidt1, H J Christen, P Herkenrath
1Universitäts-Kinderklinik, Cologne, Germany.
Unlabelled:
Schimke immuno-osseous dysplasia is a multisystem disorder consisting of spondylo-epiphysial dysplasia, progressive renal insufficiency due to focal segmental glomerulosclerosis, and immunodeficiency. Cerebrovascular complications have only been described in five patients. Here we report a patient with prominent neurological symptoms most likely caused by transient ischaemic attacks.
Conclusion:
Neurological symptoms consisted of repeated brief spells of hemiparaesthesia, motoric aphasia and diplopia. MRI studies of the CNS revealed progressive white matter lesions. Morphological changes as well as neurological deficits are compatible with cerebral ischaemia.
Insights
Schimke immuno-osseous dysplasia can cause cerebrovascular complications, including transient ischemic attacks. This case highlights prominent neurological symptoms and white matter lesions in the brain, suggesting cerebral ischemia.
Area of Science:
- Genetics and rare diseases
- Immunology
- Neurology
Background:
- Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder.
- SIOD is characterized by spondyloepiphyseal dysplasia, renal insufficiency, and immunodeficiency.
- Cerebrovascular complications are infrequent but serious manifestations of SIOD.