Cerebellar atrophy in schimke-immuno-osseous dysplasia

Thomas Lücke, Johanna Marietta Clewing, Cornelius F. Boerkoel, Hans Hartmann, Anibh M. Das, Michael Knauth, Hartmut Becker, Frank Donnerstag

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Schimke-immuno-osseous dysplasia is an autosomal-recessive multisystem disorder with the prominent clinical features disproportionate growth failure, progressive renal failure, and T-cell immunodeficiency. Neurological symptoms caused by transient ischemic attacks (TIAs) and strokes are a typical clinical finding in severe SIOD. Cerebral ischemia and white matter changes, moyamoya phenomena and absence of a cerebellar hemisphere and partial absence of the cerebellar vermis have been described in patients with severe SIOD. We present three SIOD patients with atrophy of the caudal parts of the cerebellar vermis (posterior lobule) and of the cerebellar hemispheres. We hypothesize that these cerebellar abnormalities are a continuum of the ongoing vascular disease in severe SIOD.

Original languageEnglish (US)
Pages (from-to)2040-2045
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number17
DOIs
StatePublished - Sep 1 2007

Keywords

  • Cerebellar atrophy
  • Ischemia
  • Schimke-immuno-osseous dysplasia
  • Vaso-occlusive disease
  • White matter

ASJC Scopus subject areas

  • Genetics(clinical)

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