Julia TravkinaSt.Luke Hospital Galanta, Slovakia
Title: Familial cerebral cavernous malformation: two clinical cases
Cavernous malformations are vascular anomalies affecting the brain, spinal cord and other organs. With the advent of advanced neuroimaging, the incidence of cavernous
malformations is increasing. While some cases occur sporadically, genetic diagnosis has made it possible to identify patients with familial forms of the disease. Our case reports present familial forms of the disease with genetic background and their clinical presentation. The first case presents a female patient with cerebral cavernous malformation type 3 and mutation on the PDCD10 gene and only cerebral presentation of the disease. The second case is a male patient with the same cavernous malformation type 3 and mutation on the PDCD10 gene, but with multiorgan involvement - brain and parenchymatous organs. Both patients will be followed closely on an annual basis for new brain/spine lesions. These cases may contribute to a better understanding of the clinical features and genetic background of this condition.
Julia Travkina is an accomplished neurologist who completed a 5-year neurology internship program at the Slovak Medical University in Bratislava, graduating at the age of 31. With a range of experience in general neurology, Julia has worked in various clinical settings, including the neurology department, neurological intensive care unit, and stroke unit, where she has managed patients with complex neurological conditions, neuro-oncological patients, patients with vascular abnormalities, etc. Throughout her career, Julia has published several articles in both local and international journals, with a particular focus on stroke and neurotoxicity.