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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Arq. Neuro-Psiquiatr. vol.77 no.7 São Paulo July 2019  Epub July 29, 2019 


Pseudoxanthoma elasticum presenting as akinetic-rigid parkinsonism and dementia

Pseudoxantoma elástico se apresentando como parkinsonismo acinético-rígido e demência

Paulo Victor Sgobbi de SOUZA1

Bruno de Mattos Lombardi BADIA1

Wladimir Bocca Vieira de Rezende PINTO1

Acary Souza Bulle OLIVEIRA1

Luiz Henrique Libardi SILVA1 

Daniel Delgado SENEOR1 

Vitor Dias Gomes Barrios MARIN1 

Carlos Alberto Castro TEIXEIRA JÚNIOR1 

Marco Antônio Troccoli CHIEIA1 

Igor Braga FARIAS1 

1Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil.

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).

Figure 1 Typical skin lesions in pseudoxanthoma elasticum. Note the presence of (A,B) axillary and neck yellowish papules and plaques with cobblestone appearance and (C) mucosal lesions in the inner aspect of the lower lip (white arrow). 

Figure 2 Neuroimaging findings in pseudoxanthoma elasticum. Axial brain MR imaging showing multiple pontine and bilateral basal ganglia lacunar infarcts with iron deposition in FLAIR sequence (A-C), T2-weighted imaging (D-F), T1-weighted imaging (G) and SWI sequences (H). (I,J) Brain Tc-99m SPECT disclosing bilateral frontal hypoperfusion (white arrows). 

Pseudoxanthoma elasticum is a rare autosomal recessive ectopic mineralization disorder1,2, which can present a complex neurological picture due to severe vascular compromise, rarely with movement disorders1,2.


1. Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005 Dec;42(12):881-92. ]

2. Renard D, Castelnovo G, Jeanjean L, Perrochia H, Brunel H, Labauge P. Teaching neuroimage: microangiopathic complications in pseudoxanthoma elasticum. Neurology. 2008 Nov;71(22):e69. ]

Ethical statement: Full consent was obtained from the patient for the case report. This study was approved by our Ethics Institution.

Received: December 14, 2018; Revised: February 03, 2019; Accepted: February 16, 2019

Correspondence: Wladimir Bocca Vieira de Rezende Pinto; Departamento de Neurologia e Neurocirurgia da UNIFESP; Rua Estado de Israel, 899; 04022-002 São Paulo SP, Brasil; E-mail:

Conflict of interest: There is no conflict of interest to declare.

Creative Commons License  This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.