Neuropediatrics 2011; 42(06): 234-236
DOI: 10.1055/s-0031-1291243
Short Communication
© Georg Thieme Verlag KG Stuttgart · New York

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

S. P. Toelle
1  Department of Neurology, University Children’s Hospital, Zurich, Switzerland
,
L. Weibel
2  Department of Dermatology, University Children’s Hospital, Zurich, Switzerland
,
H. Schiegl
3  Department of Diagnostic Imaging, University Children’s Hospital, Zurich, Switzerland
,
E. Boltshauser
1  Department of Neurology, University Children’s Hospital, Zurich, Switzerland
› Author Affiliations
Further Information

Publication History

received 22 July 2011

accepted 22 September 2011

Publication Date:
21 October 2011 (eFirst)

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.