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angioid streak

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29 - CEREBRAL CAVERNOUS MALFORMATIONS AND DEVELOPMENTAL VENOUS ANOMALIES
from PART II: - HEREDITARY AND GENETIC CONDITIONS AND MALFORMATIONS
- By Philippe Metellus, Siddharth Kharkar, Doris Lin, Sumit Kapoor, Daniele Rigamonti
Edited by Louis R. Caplan, Julien Bogousslavsky
Book:

Uncommon Causes of Stroke

Published online:

06 January 2010

Print publication:

09 October 2008, pp 189-220
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Summary

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder, characterized predominantly by skin, eye, cardiac, and vascular abnormalities. The genetic defect has been mapped to the ABCC6 gene on chromosome 16. The most characteristic and diagnostic feature of PXE is the angioid streaks found in the retina. The streaks are red-brown or gray, are usually wider than veins, and radiate from the optic disc. Abdominal angina and ischemic bowel disease occasionally develop. Hypertension is also very common in patients with PXE and often contributes to the cardiac and cerebrovascular pathology leading to strokes. Premature occlusive cervicocranial disease and aneurysmal subarachnoid hemorrhage are the two cerebrovascular problems directly attributable to PXE. It is difficult in patients with Binswanger-like abnormalities, PXE, and hypertension to know how much of the abnormalities, if any, relate directly to PXE and how much are attributable to the hypertension.

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29 - CEREBRAL CAVERNOUS MALFORMATIONS AND DEVELOPMENTAL VENOUS ANOMALIES

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29 - CEREBRAL CAVERNOUS MALFORMATIONS AND DEVELOPMENTAL VENOUS ANOMALIES

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