Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation‐arteriovenous malformation syndrome. Issue 1 (20th November 2019)

• Record Type: Journal Article
• Authors: Plumptre, Isabella; Robertson, Fergus; Rennie, Adam; James, Greg; Syed, Samira B.
• Is Part Of: Pediatric dermatology. Volume 37:Issue 1(2020)
• Page Start: 162
• Page End: 164
• Publication Date: 2019-11-20
• Subjects: genetic diseases -- mechanisms -- vascular malformation; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14029
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: Capillary malformation‐arteriovenous malformation syndrome (CM‐AVM) is a rare condition associated with mutations in the genes RASA1 and EPHB4 . We present a challenging case of CM‐AVM in a 17‐month‐old boy with permanent diplegia from an undiagnosed arteriovenous malformation underlying a large atypical capillary malformation over the lower thoracic spine. This case demonstrates that clinicians should have a low threshold for neuroimaging in the context of new neurologic symptoms in patients with atypical capillary malformations.