Pseudoxanthoma elasticum presenting as akinetic-rigid parkinsonism and dementia

Abstract

A 54-year-old man presented with a three-year history of progressive cognitive decline, abulia, apathy, slowing movements and global rigidity. Medical history, confirmed by skin biopsy, revealed a definite diagnosis of pseudoxanthoma elasticum. Examination disclosed angioid streaks at funduscopic evaluation, skin lesions (Figure 1), bradykinesia and marked symmetrical akinetic-rigid parkinsonism with cogwheel rigidity. Neuroimaging studies showed multiple lacunar infarcts in the basal ganglia and brainstem. Tc-99m SPECT imaging showed bilateral frontal hypoperfusion (Figure 2). Pseudoxanthoma elasticum is a rare autosomal recessive ectopic mineralization disorder 1,2 , which can present a complex neurological picture due to severe vascular compromise, rarely with movement disorders 1,2 .