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Images in Neurology
August 2016

Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome

Author Affiliations
  • 1Department of Neurology, Medical College of Wisconsin, Milwaukee
  • 2Department of Genetics, Medical College of Wisconsin, Milwaukee

Copyright 2016 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Neurol. 2016;73(8):1020-1021. doi:10.1001/jamaneurol.2016.0268

Pseudo-α-galactosidase deficiency (PAGD) syndrome occurs when a mutation reduces measured enzyme activity in vitro, despite normal intracellular activity. White matter lesions have been reported infrequently in PAGD syndrome.1 Importantly, to our knowledge, no report mentions characteristic pulvinar hyperintensity on T1-weighted imaging in PAGD syndrome, a highly specific sign of Fabry disease in male patients.2,3 Although atrophy of selective brain areas occurs in a few cases, to our knowledge, no article reports diffuse cortical atrophy by imaging in Fabry disease or PAGD syndrome.1,4