التفاصيل البيبلوغرافية
العنوان: |
Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation‐arteriovenous malformation syndrome. |
المؤلفون: |
Plumptre, Isabella1 (AUTHOR), Robertson, Fergus2 (AUTHOR), Rennie, Adam2 (AUTHOR), James, Greg3 (AUTHOR), Syed, Samira B.1 (AUTHOR) samirabatul.syed@gosh.nhs.uk |
المصدر: |
Pediatric Dermatology. Jan2020, Vol. 37 Issue 1, p162-164. 3p. 2 Diagrams. |
مصطلحات موضوعية: |
*HUMAN abnormalities, *THORACIC vertebrae, *SYNDROMES, *CEREBRAL arteriovenous malformations, *ARTERIOVENOUS malformation |
مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
قاعدة البيانات: |
Academic Search Index |