Vascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report.
Acta Neurochir (Wien)
; 165(12): 3799-3804, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-37917379
ABSTRACT
This report describes a unique case of vascular Ehlers-Danlos syndrome (vEDS) characterized by multiple spontaneous direct carotid-cavernous sinus fistulas (CCF). The patient initially presented with ocular symptoms and was effectively treated with transarterial coil embolization. Five years later, the patient developed recurrent contralateral CCF that required complex endovascular techniques. Genetic testing identified a novel mutation in the COL3A1 gene, confirming the diagnosis of vEDS. This case report provides a near-term perspective on the identification of structural abnormalities in the COL3A1 protein to ensure the safety of endovascular therapy for patients with vEDS.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fístula Carótido-Cavernosa
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Síndrome de Ehlers-Danlos
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Embolização Terapêutica
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Síndrome de Ehlers-Danlos Tipo IV
Limite:
Humans
Idioma:
En
Revista:
Acta Neurochir (Wien)
Ano de publicação:
2023
Tipo de documento:
Article