A case of Jacobsen syndrome with multifocal white matter lesions

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2 Scopus citations

Abstract

Jacobsen syndrome is a rare disorder caused by partial deletions of the long arm of chromosome 11. The phenotype is variable with involvement of multiple organ systems, resulting in congenital heart defects, blood dyscrasias, and impaired growth. We describe a case of a 30-year-old man with multiple ophthalmic manifestations and brain magnetic resonance imaging (MRI) that was remarkable for multiple T2-hyperintense subcortical white matter lesions. It is important to be aware that patients with Jacobsen syndrome may have nonspecific white changes seen on MRI.

Original languageEnglish (US)
Pages (from-to)705-706
Number of pages2
JournalClinical Imaging
Volume40
Issue number4
DOIs
StatePublished - Jul 1 2016

Keywords

  • Jacobsen syndrome
  • MRI
  • Pediatric neuroradiology
  • White matter disease

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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