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Master Thesis

Anomalies cérébrovasculaires au cours du pseudoxanthome élastique : une étude rétrospective physiopathologique

Abstract : Background: Pseudoxanthoma eslasticum (PXE) is an inherited metabolic disease characterized by elastic fiber fragmentation and calcification in the cutaneous, ophthalmologic, and vascular tissues. Cardiovascular manifestations such as peripheral arterial disease are frequent in PXE, cardiac involvement is more sporadic. Data about cerebrovascular manifestations are sparse in the literature. The purpose of this study was to investigate the prevalence of symptomatic stroke, the prevalence of extra-cranial cerebrovascular arteries abnormalities and to determine the predictive factors could explain those manifestations. Methods: This was a retrospective study, wich took place at the PXE Consultation Center, University Hospital of Angers from 2000 to 2014. The subjects were 114 patients (mean age, (45 ± 17 years)) with PXE clinically proven on the basis of established criteria (skin changes, angioid streaks, and skin biopsy). All patients received a complete vascular cartography by ultrasound and computed tomography (CT scan), particularly a morphologic and hemodynamic parameters' study of the cerebrovascular and lower limb arteries. Also, personnal and familial vascular history more particularly strokes were noted and all the classical cardiovascular disease's risk factors and ultra sensitive C–reactive protein were measured. Results: 9.65 percent of the PXE patients had a stroke during that time. The latter were younger than the general population: the average age was (54 ±15 years) evenly shared between male (n=5) and female (n=6). Hypertension (p=0.006), low ankle brachial index (ABI) (p=0.0035), coronary calcium score (p=0.045) could explain stroke risks as we can expect in the general population. Moreover, 12 patients had internal carotid hypoplasia defined by a diameter < 3mm. 3 of them had a stroke history. The risk to develop stroke is not significative in this particular patient according to our study (p=0.669). This carotid hypoplasia is associated to a low ABI (p=0.005) and to a lesser diameter of the common carotid artery (p=0.0001) and these to could be specific to PXE. Conclusion: PXE, a metabolic and secondary connective tissue disorder is a cause of stroke among young people. Cardiovascular risk factors such as hypertension, metabolic syndrome could precipitate and worsen the risk to develop stroke in PXE patients. Internal carotid hypoplasia has been discovered for the first time in PXE patients and it could be pathognomonic. This extra-cranial malformation discovery must trigger off PXE diagnostic among the patient and therefore afk for cerebral magnetic resonance (MRI).
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01097307
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Submitted on : Friday, December 19, 2014 - 1:57:39 PM
Last modification on : Wednesday, August 23, 2017 - 4:32:39 PM
Long-term archiving on: : Monday, March 23, 2015 - 5:51:31 PM

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Loukman Omarjee. Anomalies cérébrovasculaires au cours du pseudoxanthome élastique : une étude rétrospective physiopathologique. Médecine humaine et pathologie. 2014. ⟨dumas-01097307⟩

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