A case of Jacobsen syndrome with multifocal white matter lesions

Resultado de la investigación: Articlerevisión exhaustiva

3 Citas (Scopus)


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.

Idioma originalEnglish (US)
Páginas (desde-hasta)705-706
Número de páginas2
PublicaciónClinical Imaging
EstadoPublished - jul 1 2016

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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