Phacomatosis Pigmentovascularis and Extensive Venous Malformation of Brain Vessels: An Unknown Association or a New Vascular Neurocutaneous Syndrome?

S. P. Toelle; L. Weibel; H. Schiegl; E. Boltshauser

doi:10.1055/s-0031-1291243

Neuropediatrics, Table of Contents

Neuropediatrics 2011; 42(06): 234-236
DOI: 10.1055/s-0031-1291243

Short Communication

Phacomatosis Pigmentovascularis and Extensive Venous Malformation of Brain Vessels: An Unknown Association or a New Vascular Neurocutaneous Syndrome?

S. P. Toelle

¹Department of Neurology, University Children’s Hospital, Zurich, Switzerland

,

L. Weibel

²Department of Dermatology, University Children’s Hospital, Zurich, Switzerland

,

H. Schiegl

³Department of Diagnostic Imaging, University Children’s Hospital, Zurich, Switzerland

,

E. Boltshauser

¹Department of Neurology, University Children’s Hospital, Zurich, Switzerland

› Author Affiliations

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.

Key words

phacomatosis pigmentovascularis - twin spotting - venous malformations

Full Text

References

References
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