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Cerebral complications in Schimke immuno-osseous dysplasia

  • MEDICAL GENETICS
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Abstract

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 re-peated 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.

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Authors and Affiliations

  1. Universitäts-Kinderklinik, Joseph-Stelzmann-Strasse 9, D-50924 Cologne, Germany, Fax: 0221/478-6451, , , , , , DE

    B. Schmidt, P. Herkenrath, J. Müller-Berghaus & U. Querfeld

  2. Kinderklinik und Poliklinik Georg-August-Universität Göttingen, Göttingen, Germany, , , , , , DE

    H. J. Christen

  3. Radiologisches Institut der Universität zu Köln, Kinderradiologie, Cologne, Germany, , , , , , DE

    G. Benz-Bohm

Authors
  1. B. Schmidt
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  2. H. J. Christen
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  3. P. Herkenrath
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  4. G. Benz-Bohm
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  5. J. Müller-Berghaus
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  6. U. Querfeld
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Additional information

Received: 13 November 1996 / Accepted: 18 March 1997

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Schmidt, B., Christen, H., Herkenrath, P. et al. Cerebral complications in Schimke immuno-osseous dysplasia. Eur J Pediatr 156, 789–791 (1997). https://doi.org/10.1007/s004310050714

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  • DOI: https://doi.org/10.1007/s004310050714

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