Belgian Journal of Paediatrics
Capillary malformation – arteriovenous malformation syndrome (CM-AVM): a diagnosis not to be missed.
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Keywords

CM-AVM
capillary malformation – arteriovenous malformation syndrome
case report
child

Categories

How to Cite

Willaert, P., De Maeseneer, H., & Van Gysel, D. (2024). Capillary malformation – arteriovenous malformation syndrome (CM-AVM): a diagnosis not to be missed.: Capillary malformation – arteriovenous malformation syndrome (CM-AVM). Belgian Journal of Paediatrics, 26(1), 68–69. Retrieved from http://belgjpaediatrics.com/index.php/bjp/article/view/282

Abstract

We present 2 patients with multifocal, small, round to oval, red and pink spots, some with a white halo. The diagnosis of capillary malformation - arteriovenous malformation syndrome (CM-AVM) was made based on their (common) characteristic clinical features and confirmed genetically by documenting a (different) germline heterozygous mutation in the RASA1 gene. In patients with a genetically confirmed diagnosis of CM-AVM, we recommend that at least one brain MRI angiography be performed at baseline and on a low-threshold basis in individuals with symptoms to rule out intracranial arteriovenous malformations and arteriovenous fistulas.

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