Teaching NeuroImage: Microangiopathic complications in pseudoxanthoma elasticum
D. Renard, MD,
G. Castelnovo, MD,
L. Jeanjean, MD,
H. Perrochia, MD,
H. Brunel, MD and
P. Labauge, MD, PhD
From the Departments of Neurology (D.R., G.C., P.L.), Ophthalmology (L.J.), and Anatomopathology (H.P.), CHU Nîmes, Hôpital Caremeau, Nîmes; and Department of Neuroradiology (H.B.), CHU Montpellier, Hôpital Gui de Chauliac, Montpellier, France.
Address correspondence and reprint requests to Dr. Dimitri Renard, Department of Neurology, CHU Nîmes, Hôpital Caremeau, Place du Pr Debré, 30029 Nîmes Cedex 4, France dimitrirenard{at}hotmail.com
A 43-year-old woman without vascular risk factors presentedwith acute right sensorimotor deficit. Her medical history revealedpseudoxanthoma elasticum (PXE), diagnosed at age 29 by characteristicfindings on skin biopsy (performed because of progressive skinlesions) and funduscopy (figure 1), complicated by peripheralartery disease and vision impairment.
Figure 1 Patient, skin histopathology, and eye fundus
(A) Redundant axillary skin folds demonstrate loss of elasticity. (B) Histopathology of the skin on orcein stain showing calcium deposits (arrow) and swollen, fragmented elastic fibers (arrowheads). (C) Fundus photography of the eye shows characteristic angioid streaks (arrowheads), and a large retinal scar (white arrow) due to a macular hemorrhage (black arrows).
Brain MRI showed pontine lacunar infarcts and microbleeds (figure 2),concordant with earlier reported microangiopathic complicationsin PXE.1,2
(A) MRI showing pontine ischemic T2 hyperintensities and (B) multiple foci of low intensity in the pons on echogradient T2-weighted images consistent with microbleeds.
PXE is an inherited disorder characterized by progressive calcificationand degeneration of elastic fibers, primarily affecting skin,eyes, and gastrointestinal and cardiovascular system. Managementincludes treatment of complications and strict control of cardiovascularrisk factors.
van den Berg JS, Hennekam RC, Cruysberg JR, et al. Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum. Cerebrovasc Dis 2000;10:315–319.[Medline]
Pavlovic AM, Zidverc-Trajkovic J, Milovic MM, et al. Cerebral small vessel disease in pseudoxanthoma elasticum: three cases. Can J Neurol Sci 2005;32:115–118.[Medline]
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