A case of Jacobsen syndrome with multifocal white matter lesions.
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.
University of Texas Health Science Center San Antonio. Electronic address: yuf@uthscsa.edu.
Fang
F
Yu
Department of Ophthalmology, University of Texas Health Science Center San Antonio.
John E
JE
Carter
Department of Radiology, University of Texas Health Science Center San Antonio.
Carlos
C
Bazan
D000328:Adult; D001927:Brain Diseases / Q000150:complications* / Q000473:pathology*; D003287:Contrast Media; D005682:Gadolinium; D006801:Humans; D007089:Image Enhancement; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D066127:White Matter / Q000473:pathology*
D003287:Contrast Media; D005682:Gadolinium
Jacobsen syndrome; MRI; Pediatric neuroradiology; White matter disease