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Images in Neurology |

Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome

Salman Farooq, MD1; Bradley C. Hiner, MD1; William J. Rhead, MD, PhD2; Alison La Pean Kirschner, MS, CGC2; Thomas C. Chelimsky, MD1
[+] Author Affiliations
1Department of Neurology, Medical College of Wisconsin, Milwaukee
2Department of Genetics, Medical College of Wisconsin, Milwaukee
JAMA Neurol. 2016;73(8):1020-1021. doi:10.1001/jamaneurol.2016.0268.
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This case report describes a woman in her 40s who developed pulvinar hyperintensity through pseudo-α-galactosidase deficiency syndrome.

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

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T1-Weighted Magnetic Resonance Imaging (MRI) Showing Characteristic Pulvinar Sign With Diffuse Cortical Atrophy

T1-weighted MRI showing bilateral hyperintensity in the pulvinar and diffuse cortical atrophy in a female patient with pseudo-α-galactosidase deficiency syndrome. The arrowheads indicate bilateral hyperintensity in the pulvinar region of the thalamus.

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