A case of Jacobsen syndrome with multifocal white matter lesions

Fang Yu, John E. Carter, Carlos Bazan

Research output: Contribution to journalArticle

1 Citation (Scopus)

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
Externally publishedYes

Fingerprint

Jacobsen Distal 11q Deletion Syndrome
Eye Manifestations
Magnetic Resonance Imaging
Chromosomes, Human, Pair 11
Congenital Heart Defects
Phenotype
Brain
Growth
White Matter

Keywords

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

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

A case of Jacobsen syndrome with multifocal white matter lesions. / Yu, Fang; Carter, John E.; Bazan, Carlos.

In: Clinical Imaging, Vol. 40, No. 4, 01.07.2016, p. 705-706.

Research output: Contribution to journalArticle

Yu, Fang ; Carter, John E. ; Bazan, Carlos. / A case of Jacobsen syndrome with multifocal white matter lesions. In: Clinical Imaging. 2016 ; Vol. 40, No. 4. pp. 705-706.
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