Multiple Intracranial Arteriovenous Fistulas in Cowden Syndrome.
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.
Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain. Electronic address: drprats@hotmail.com.
Luis A
LA
Prats-Sánchez
Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Jose V
JV
Hervás-García
Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Juan L
JL
Becerra
Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Manuel
M
Lozano
Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Carlos
C
Castaño
Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Josep
J
Munuera
Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Domingo
D
Escudero
Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Carlos
C
García-Esperón
D015901:Angiography, Digital Subtraction; D001164:Arteriovenous Fistula / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy; D002533:Cerebral Angiography / Q000379:methods; D038524:Diffusion Magnetic Resonance Imaging; D004621:Embolization, Therapeutic; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006223:Hamartoma Syndrome, Multiple / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy; D018810:Magnetic Resonance Angiography; D008297:Male; D008875:Middle Aged; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics; D013226:Status Epilepticus / Q000209:etiology; D013345:Subarachnoid Hemorrhage / Q000209:etiology; D016896:Treatment Outcome
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
Cowden syndrome; PTEN; arteriovenous fistula; brain hemorrhage