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Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation‐arteriovenous malformation syndrome
Author(s) -
Plumptre Isabella,
Robertson Fergus,
Rennie Adam,
James Greg,
Syed Samira B.
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14029
Subject(s) - arteriovenous malformation , medicine , diplegia , context (archaeology) , intracranial arteriovenous malformations , vascular malformation , radiology , cerebral angiography , angiography , physical medicine and rehabilitation , cerebral palsy , paleontology , biology
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.