Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome.
Pediatr Dermatol
; 37(1): 162-164, 2020 Jan.
Article
en En
| MEDLINE
| ID: mdl-31746477
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Malformaciones Arteriovenosas
/
Enfermedades de la Médula Espinal
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Capilares
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Parálisis Cerebral
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Fístula Arteriovenosa
/
Mancha Vino de Oporto
/
Proteína Activadora de GTPasa p120
/
Diagnóstico Erróneo
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Dermatol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Reino Unido