Naslov
Thrombolysis in a young patient with Gorlin Goltz syndrome and 4G/4G homozygote for PAI-1 gene – case report.

Autori
Budinčević, Hrvoje ; Starčević, Katarina ; Bielen, Ivan.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Acta Clinica Croatica 50(Suppl 2): 110-111. / - , 2011, 110-111

Skup
51st International Neuropsychiatric Pula Congress

Mjesto i datum
Pula, Hrvatska, 15.06.2011. - 18.06.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
stroke; tPA; PAI

Sažetak
Introduction Gorlin-Goltz or Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple basocellular carcinomas, dysmorphic facial features due to multiple benign odontogenic keratocysts and musculoskeletal anomalies, most commonly bifid ribs. PAI-1 gene codes for the plasminogen activator inhibitor, an important antithrombolytic agent which acts by inhibitng plasminogen activators (both tissue PA and urokinase PA). Role of PAI-1 gene in vascular incidents is still debated. It has been shown that 4G/4G homozygotes have a higher transcription activity and subsequent higher PAI-1 levels. It is thought that this raises the risk for thromboembolic incidents. Case report We present a case of a 32-year old male previously diagnosed the Gorlin-Goltz syndrome with the history of multiple basocellular carcinomas and odontogenic cysts and without known stroke risk factors, who presented with sudden-onset right-sided hemiparesis, supranuclear facioparesis and motor aphasia (NIHSS 10). Patient full-filled all inclusion criteria and was treated with intravenous thrombolysis with significant improvement (NIHSS 2). The control brain MRI verified small subacute ischemic lesion in the supply area of left middle cerebral artery with developmental anomaly of the interventricular septum consisting of a cavum septi and cavum vergae, as well as multiple falx and tentorial calcifications otherwise characteristic for the Gorlin Goltz syndrome. Further radiologic findings showed a bifid first rib and scoliosis. Neurosonological examination and MR angiography of neck vessels showed an occlusion of left vertebral artery and an abnormal right vertebral artery originating directly from the left side of the aortic arch. Laboratory tests initially showed an elevated aCL level, but turned out to be normal on repeated testing. Genetic typing came positive for the 4G/4G polymorphism of the PAI-1 gene. Conclusion Gorlin-Goltz syndrome has not yet been associated with serious neurological disorders, most notably cerebrovascular incidents. Also vertebral arteries' anomalies including the occluded left one and an aberrant right one originating on the left side of the aortic arch are additional findings, not otherwise associated with this syndrome. Finding the mutation of PAI-1 gene (4G/4G homozygote) could be important for favoring the risk for thromboembolic incidents. Additionally, we point out that thrombolytic therapy in our patient with Gorlin-Goltz syndrome was safe and successful.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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