Cerebral complications in Schimke immuno-osseous dysplasia

B Schmidt1, H J Christen, P Herkenrath

  • 1Universitäts-Kinderklinik, Cologne, Germany.

Abstract

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.

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