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Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous
Isabella Plumptre1, Fergus Robertson2, Adam Rennie2
1Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
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.
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