Open AccessType 1 neurofibromatosis and its relation to the occurrence of cerebral vascular accident
Author(s) -
Bruno Custódio Silva,
Fernanda Silva dos Santos,
Victória Porcher Simioni,
Ana Luíza Kolling Konopka,
Paulo Ricardo Gazzola Zen,
Rafael Fabiano Machado Rosa
Publication year - 2021
Language(s) - English
Resource type - Conference proceedings
DOI - 10.5327/1516-3180.077
Subject(s) - medicine , macrocephaly , neurofibromatosis , radiology , magnetic resonance imaging , vomiting , context (archaeology) , stroke (engine) , surgery , pediatrics , mechanical engineering , paleontology , biology , engineering
Context: Neurofibromatosis type 1 (NF1) is characterized by “café-au-lait” (CAL) spots, ephelids, cutaneous neurofibromas and iris Lisch nodules. Case report: A 63 year-old female patient came to evaluation due to NF1. She had a history of CAL spots, nodules on the skin, cognitive deficit and seizures. Chest X-ray showed several small nodules scattered in soft tissues of the thoracic wall. Magnetic resonance imaging of the skull demonstrated a possible increase in intracranial pressure. Computed tomography scan of the skull showed a hypodense area in the left hemisphere, consistent with a recent ischemic stroke. At the consultation, the patient reported episodes of headache, dizziness, nausea, vomiting, walking difficulty and pain in the thighs. On physical exam, she presented macrocephaly and diffuse nodular lesions. She also had masses in the abdominal and pelvic regions. On neurological exam, there was a pyramidal syndrome with right release pathway; ataxic gait; grade IV strength and Babinski sign. The patient was referred for surgical removal of the neurofibromas and died due to perioperative complications. Conclusions: Among patients with NF1, stroke is more common and occurs at a younger age than in the general population. The vasculopathy seen in NF1 involves the anterior and middle cerebral arteries, which can have serious or even fatal consequences. Anatomical vascular variants and intracranial aneurysms also occur more frequently in individuals with NF1.