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Gorlin-Goltz syndrome and stroke: a case report
Hrvoje Budinčević1, Katarina Starčević, Ivan Bielen
1Hrvoje Budinčević, MD, PhD, Stroke and Intensive Care Unit Department of Neurology , "Sveti Duh" University Hospital , Sveti Duh 64 , HR-10000 Zagreb, Croatia; hbudincevic@gmail.com.
Acta Dermatovenerologica Croatica : ADC
|September 18, 2014
Summary
A young male with Gorlin-Goltz syndrome experienced a stroke. Prompt thrombolytic therapy resolved his symptoms, highlighting the importance of rapid intervention in stroke patients with this rare genetic condition.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Gorlin-Goltz syndrome is a rare genetic disorder associated with various developmental abnormalities.
- Stroke is an uncommon but serious complication that can occur in patients with this syndrome.
Observation:
- A 32-year-old male with Gorlin-Goltz syndrome presented with acute neurological deficits including hemiparesis, facial palsy, and aphasia.
- Radiological findings revealed an ischemic stroke in the left middle cerebral artery territory, vertebral artery anomalies, and falx calcifications.
Findings:
- The patient's stroke symptoms were successfully treated with thrombolytic therapy.
- Genetic analysis identified a 4G/4G polymorphism in the plasminogen activator inhibitor 1 (PAI-1) gene.
Implications:
- This case underscores the potential for cerebrovascular events in Gorlin-Goltz syndrome.
- The 4G/4G PAI-1 genotype may be a contributing factor to stroke risk in this patient population.
- Early recognition and management of stroke are crucial for favorable outcomes in affected individuals.
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