Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation‐arteriovenous malformation syndrome

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.