Pseudoxanthoma elasticum

Messis, Chris P.; Budzilovich, Gleb N.

doi:10.1212/wnl.20.7.703

Cited by 22 publications

(9 citation statements)

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“…PXE patients under 65 years have an excess of ischaemic strokes, and we estimated a relative risk of 3.6. Focal cerebral ischaemia in PXE is predominantly caused by small-vessel occlusive disease, with hypertension, also common in PXE, as an accelerating factor as was suggested before [7, 19, 28]. Our findings strongly confirm this relationship.…”

Section: Discussionsupporting

confidence: 91%

“…Brain autopsy reports of 2 patients with PXE have not shown macroscopic intracranial aneurysms or pouch formation of cerebral vessels [20, 28], and cerebral angiograms in 3 patients with PXE showed no intracranial aneurysm [15, 22, 29]. In a series of 100 patients with PXE, 1 patient had a ruptured cerebral aneurysm, not further specified, at the age of 67 years [30].…”

Section: Discussionmentioning

confidence: 99%

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Prevalence of Symptomatic Intracranial Aneurysm and Ischaemic Stroke in Pseudoxanthoma Elasticum

Berg

Hennekam²,

Cruysberg

et al. 2000

Cerebrovasc Dis

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Background: Pseudoxanthoma elasticum (PXE) is an heritable connective tissue disorder with clinical manifestations of the ocular, dermal, and cardiovascular system. The purpose of this study was to investigate the prevalence of symptomatic intracranial aneurysms (IAs) and ischaemic stroke (IS) in PXE. Methods: The records of 100 patients with PXE were retrieved. All patients were contacted and data on complications were collected. The literature was reviewed regarding PXE, ISs, and IAs. Results: No patient with PXE had a symptomatic IA as presenting symptom. One patient presented with an IS. During follow-up of 94 of the 100 patients (mean follow-up 17.1 years, range 1–49 years), none presented a symptomatic IA (3,168 retrospective patient observation years and 1,602 prospective patient observation years). Upper gastrointestinal haemorrhage during follow-up occurred in 17 patients, in 1 patient during aspirin use. One patient has IS as presenting symptom and a recurrence during follow-up, and 7 patients had IS during follow-up. All were caused by small-vessel disease. The relative risk of IS in PXE under 65 years compared with the general population was 3.6 (95% confidence interval 3.3–4.0). Conclusions: On the basis of the currently available data, an association between symptomatic IAs and PXE is unlikely. However, the incidence of IS, due to small-vessel disease, was increased. Antiplatelet therapy in patients with PXE may lead to a high incidence of upper gastrointestinal haemorrhages.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Prevalence of Symptomatic Intracranial Aneurysm and Ischaemic Stroke in Pseudoxanthoma Elasticum

Berg

Hennekam²,

Cruysberg

et al. 2000

Cerebrovasc Dis

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“…and conforms with prior patho logical [4][5][6] and clinical [4][5][6]9] descriptions resembling a multi-infarct state in patients with PXE. Two pathologic reports [5,6] emphasized diffuse demyelination and soft ening of the deep white matter, with marked fibrosis and narrowing of the penetrating arterioles, reminiscent of Rinswanger's disease [25,26], In both patients [5,6], split ting and disintegration of the internal elastic lamina in arterioles was pronounced, and in one case, mineraliza tion of these vessels was described [6], These features dif ferentiate the arteriopathy of PXE from the usual appear ance of arteriosclerosis [1,5,6], Both o f our patients had hypertension, which may accelerate this degenerative pro cess. In this view, the underlying connective tissue defect in PXE may increase the susceptibility of cerebral resis tance vessels to the effects of elevated blood pressure.…”

supporting

confidence: 84%

“…Hypertension h; s been reported to be 3-fold more common than in the geieral population [2], presumably the result of either re duced compliance of the arterial system [3,16] or involve m ent of the renal glomeruli [2], Prem ature coronary artery disease [17,18], calcific cardiac valvular disea.-e [19], and severe occlusive disease o f the aorta [6] may occur, the latter often resulting in asymmetric blood pré sure measurem ents, as found in our second patient. Widspread occlusion of the intracranial vessels [20][21][22], in one case with rete m irabile resembling moyamoya disease [22], has also been described.…”

Section: Discussionmentioning

confidence: 99%

Recurrent Ischemic Events and Diffuse White Matter Disease in Patients with Pseudoxanthoma Elasticum

et al. 1994

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Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder of elastic tissue with prominent dermatologic, ocular, and vascular manifestations. Although PXE has been associated with ischemic stroke, the clinical and radiologic features have not been fully characterized. We describe two women with PXE, hypertension, and progressive motor and intellectual deterioration related to multiple strokes and transient ischemic attacks beginning at ages 50 and 56. Magnetic resonance imaging in both patients showed widespread and multiple punctate ischemic vascular lesions with diffuse white matter involvement. Although brain infarction in PXE may result from a variety of mechanisms, our patients show the association of this disorder with severe, predominantly small-vessel occlusive disease.

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“…The widespread calcification of the aorta [7] and peripheral arteries, as present in our patient, [6].…”

Section: Discussionsupporting

confidence: 63%