Multiple Intracranial Arteriovenous Fistulas in Cowden Syndrome.
J Stroke Cerebrovasc Dis
; 25(6): e93-4, 2016 Jun.
Article
em En
| MEDLINE
| ID: mdl-27105569
ABSTRACT
Cowden syndrome is a rare autosomal dominant disease. It is characterized by multiple noncancerous tumorlike growths called hamartomas, which typically are found in the skin, oral mucosa, thyroid, breast, and gastrointestinal tract. It carries with it a potential risk of malignant transformation, especially of the breast and thyroid. In 80% of the cases, the human tumor suppressor gene, phosphatase and tensin homolog (PTEN), is mutated in the germ line. We report a patient with Cowden syndrome who presented with generalized seizure and left anterior temporal hemorrhage and a nontraumatic subarachnoid hemorrhage due to multiple intracranial arteriovenous fistulas (AVFs). We discuss previous reports about vascular malformations in patients with Cowden syndrome and PTEN mutations. Importantly, we hypothesize that the production of multiple AVFs in our patient was associated with PTEN mutation.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome do Hamartoma Múltiplo
/
Malformações Arteriovenosas Intracranianas
/
Fístula Arteriovenosa
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
J Stroke Cerebrovasc Dis
Assunto da revista:
ANGIOLOGIA
/
CEREBRO
Ano de publicação:
2016
Tipo de documento:
Article