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Cerebral Small Vessel Disease in Pseudoxanthoma Elasticum: Three Cases

  • Aleksandra M. Pavlovic (a1), Jasna Zidverc-Trajkovic (a1), Marija M. Milovic (a2), Dragan M. Pavlovic (a1), Zagorka Jovanovic (a1), Milija Mijajlovic (a1), Mirjana Petrovic (a3), Vladimir S. Kostic (a1) and Nada Sternic (a1)...

Abstract

Background:

Cerebral small vessel disease is rarely described in association with pseudoxanthoma elasticum (PXE), a hereditary connective tissue disorder with skin, eye and vascular manifestations. This autosomally inherited elastic tissue disease has been attributed to mutations in the ABCC6 gene located on chromosome 16p13.1. Different stroke mechanisms are suggested in PXE patients, arterial hypertension and accelerated atherosclerosis being the leading ones.

Case Descriptions:

Case 1: A 49-year-old man with history of mild hypertension presented with recurrent transient ischemic attacks. At the age of 42, evaluation for progressive visual loss and skin changes led to diagnosis of PXE. Brain magnetic resonance imaging (MRI) disclosed multiple lacunar infarctions and confluent periventricular white matter lesions (WML). Case 2: A 71-year-old woman with history of mild hypertension suffered right-sided stroke. Diagnosis of PXE was made at the age of 48 due to severe visual loss and skin changes. Brain MRI revealed multiple lacunar infarctions and subcortical ischemic leukoencephalopathy. Case 3: A 47-year-old woman with prominent skin changes and bilateral amblyopia developed right-sided weakness. Skin biopsy confirmed PXE. Several lacunar infarcts in deep white matter and pons were revealed on MRI. Discussion: We present three patients with clinical and histopathological features of PXE who presented with multiple lacunar strokes, two with extensive confluent WML. These cases illustrate that PXE is a rare but significant risk factor for small vessel disease and stroke in patients of all age groups. Occlusive small vessel disease and subsequent lacunar infarcts and WML represent important PXE manifestations.

RÉSUMÉ: Introduction:

Une maladie des petits vaisseaux cérébraux associée au pseudo xanthome élastique (PXÉ), une maladie héréditaire autosomique du tissus conjonctif impliquant la peau, les yeux et les vaisseaux a rarement été décrite. Elle est due à une mutation du gène ABCC6 qui est situé sur le chromosome 16p13,1. On a suggéré que plusieurs mécanismes différents pouvaient être en cause chez les patients qui ont un PXÉ et des accidents vasculaires cérébraux, don’t l’hypertension artérielle et une athérosclérose accélérée.

Observations: Premier cas:

Il s’agit d’un homme âgé de 49 ans ayant une histoire d’hypertension légère, qui a consulté pour des accidents ischémiques transitoires. Un diagnostic de PXÉ a été posé à l’âge de 42 ans suite à une évaluation motivée par une perte de vision progressive et des changements au niveau de la peau. L’imagerie par résonance magnétique (IRM) a montré a présence de multiples infarctus lacunaires et de lésions confluentes de la substance blanche périventriculaire (LSB). Deuxième cas: Une femme âgée de 71 ans ayant une histoire d’hypertension légère, a subi un accident vasculaire cérébral droit. Un diagnostic de PXÉ avait été posé chez elle à l’âge de 48 ans suite à une perte de vision sévère et à des anomalies de la peau. L’IRM cérébrale a montré de multiples infarctus lacunaires et une leukoencéphalopathie ischémique sous–corticale. Troisième cas: Une femme âgée de 47 ans ayant des anomalies importantes de la peau et une amblyopie bilatérale a présenté une faiblesse du côté droit. Le diagnostic de PXÉ a été confirmé par une biopsie cutanée. L’IRM a montré la présence de plusieurs infarctus lacunaires dans la substance blanche profonde et le pons.

Discussion:

Nous présentons les cas de trois patients ayant des manifestations cliniques et anatomopathologiques du PXÉ qui ont consulté pour de multiples accidents vasculaires cérébraux, dont deux étaient porteurs de LSB confluentes importantes. Ces cas illustrent que le PXÉ est un facteur de risque rare mais important de maladie des petits vaisseaux et d’accident vasculaire cérébral chez les patients de tous âges. La maladie occlusive des petits vaisseaux, les infarctus lacunaires et les LSB qui s’en suivent sont des manifestations importantes du PXÉ.

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Canadian Journal of Neurological Sciences
  • ISSN: 0317-1671
  • EISSN: 2057-0155
  • URL: /core/journals/canadian-journal-of-neurological-sciences
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