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
Farooq S, Hiner BC, Rhead WJ, Kirschner ALP, Chelimsky TC. Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome. JAMA Neurol. 2016;73(8):1020–1021. doi:10.1001/jamaneurol.2016.0268
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: