Goran Banjac
Clinical center of Montenegro, MontenegroPresentation Title:
Farmacoresistive Epilepsy and Intracerebral Hemorrhage in Two Sisters with Recessively Inherited Protein C Deficiency
Abstract
Protein C deficiency is a rare hereditary hematological disorder caused by mutations in the PROC gene, characterized by reduced protein C activity. This deficiency leads to coagulation disturbances, primarily increasing the risk of thrombotic complications. In homozygous patients, particularly in children, the clinical presentation may include neonatal complications such as purpura fulminans, disseminated intravascular coagulation, venous or intracerebral thrombosis, with possible consequent hemorrhage. Later, neurological complications such as epilepsy may also develop.
We present a case of two sisters with severe protein C deficiency, where genetic testing (WES) confirmed that both carry a homozygous PROC gene mutation (c.797A>G, p.Tyr266Cys) with reduced protein C activity.
The older sister experienced intracerebral hemorrhage and thrombosis during the neonatal period, while the younger sister suffered similar neurological complications in early childhood, further emphasizing the complexity of diagnosis and treatment. Both patients subsequently developed frequent epileptic seizures, requiring treatment with multiple antiepileptic drugs.
At the time of writing, both patients are under neurological follow-up, exhibiting mild cognitive deficits and abnormal electroencephalographic (EEG) findings at rest, with a stable neurological status
Biography
I was born on July 7, 1984, in Peć. I completed elementary school in Peć and high school in Podgorica. I graduated from the Faculty of Medicine at the University of Montenegro in 2010, finishing as the best student in my class with an average grade of 9.28. After graduation, I completed my internship at the Health Center in Podgorica and then worked at the Institute for Children’s Diseases at KCCG, in the Department of Neurology. In 2014, I began my pediatrics specialization, completing my specialist internship at the University Children’s Hospital in Belgrade. I passed my specialization exam in pediatrics in 2019 at the Faculty of Medicine in Belgrade. In February 2024, I became a subspecialist in epilepsy and clinical neurophysiology. I have been working at the Department of Neurology at the Institute for Children’s Diseases, KCCG in Podgorica for 14 years. I have published papers in various medical fields and I am currently a doctoral student at the Faculty of Medicine in Podgorica.
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