Dados do Trabalho

Título

Cerebral venous thrombosis presenting as refractory status epilepticus in a patient with complex arteriovenous fistula and PTEN mutation spectrum - a case report

RESUMO

Case report:
A 30 year old patient was admitted to the hospital with progressive consciousness impairment. She had a previous history of a complex arteriovenous fistula (AVFs), undergoing multiple embolizations. Four hours after admission, she evolved with a refractory status epilepticus, controlled using multiple drugs and with the need of mechanical ventilation.
Her admissional magnetic resonance imaging showed AVF on transverse and sigmoid sinus, also involving the inferior portion of the sagittal sinus associated with cerebral venous thrombosis on the basal vein of Rosenthal and sphenoparietal sinus. Her complex anatomy made the thrombus inaccessible for mechanical thrombectomy. She was anticoagulated and submitted to four new embolizations, but the venous hypertension persisted. Surgical venous drainage disconnection was made, remaining in a minimal state of consciousness. To elucidate the genetic mechanism behind the clinical phenotype, an exoma was made, showing a variant with loss of function on PTEN. She had no family history of neurological diseases.
Discussion:
AVFs are usually unique. However, the coexistence of refractory and recidivant lesions that progress from the anterior circulation to the posterior circulation, as our case showed, raise the question if there dormant channels between dural arteries and sinuses, which open when the sinus is occluded and venous pressure is increased or that the venous hypertension may cause hypoxia and production of angiogenic factors, that promoted endothelial growth and neoangiogenesis.
In our patient, alteration on angiogenic factors like tissue plasminogen activator, may be responsible for the multiple dural fistulas, like on some patients with PTEN mutation. There are few case reports on literature that show the correlation of patients with Cowden syndrome genotype associated with arteriovenous fistulas without other clinical manifestations but, until now, many phenotypes are correlacionated with PTEN mutations like Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Some authors suggest predisposition to thrombosis in these patients.
Final comments:
The FAVD are a subtype of AVFs. Our case displayed an atypical case of complex and large AVFs, manifesting with refractory status epilepticus secondary to a cerebral venous thrombosis that caused intense venous hypertension. The clinical spectrum of PTEN mutations is heterogeneous, and may involve patients without the classical sintomatology.

Palavras Chave

Neurovascular, neurogenetic, status epilepticus, dural arteriovenous fistula