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Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome?


Toelle, S P; Weibel, L; Schiegl, H; Boltshauser, E (2011). Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome? Neuropediatrics, 42(6):234-236.

Abstract

We report on a 16-year-old intelligent and sportive boy with the cutaneous findings of phacomatosis pigmentovascularis unclassifiable type.The skin anomaly was lateralised to his left body side since birth, fading over the years. Because of headache and dizziness, brain magnetic resonance imaging was performed, which revealed an impressive enlargement of subependymal, deep and superficial medullary veins on the right side combined with a mild atrophy of the ipsilateral parietal region. We propose to investigate patients with phacomatosis pigmentovascularis for associated venous brain malformations with adequate imaging techniques.

Abstract

We report on a 16-year-old intelligent and sportive boy with the cutaneous findings of phacomatosis pigmentovascularis unclassifiable type.The skin anomaly was lateralised to his left body side since birth, fading over the years. Because of headache and dizziness, brain magnetic resonance imaging was performed, which revealed an impressive enlargement of subependymal, deep and superficial medullary veins on the right side combined with a mild atrophy of the ipsilateral parietal region. We propose to investigate patients with phacomatosis pigmentovascularis for associated venous brain malformations with adequate imaging techniques.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2011
Deposited On:30 Jan 2012 08:07
Last Modified:07 Dec 2017 11:34
Publisher:Thieme
ISSN:0174-304X
Publisher DOI:https://doi.org/10.1055/s-0031-1291243
PubMed ID:22020813

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