Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers-Danlos syndrome.

Introduction: To date, approximately 600 unique pathogenic variants have been reported in COL3A1 associated with vascular Ehlers-Danlos syndrome (vEDS). The objective of this study was to describe a patient with a novel variant in COL3A1 associated with vEDS. Case report: We describe the clinical history and thorough phenotyping of a patient with brain aneurysms and identified a novel pathogenic variant in COL3A1. This male patient reported transient focal neurologic symptoms. Physical examination showed abnormal atrophic scarring, horizontal stretch marks under the arms, and an acrogeric appearance of the skin of the hands and feet. Brain imaging revealed extensive dilation of both internal carotids and the vertebrobasilar system. Molecular analysis identified a variant in COL3A1 (NM_000090.4):c.3058G>T p.(Gly1020Cys), which was classified as likely pathogenic. Currently, the patient has never had an event concerning dissection/rupture of tissues that could be affected in this condition. Conclusion: This report demonstrates that exhaustive evaluation with clinical and genetic approaches should be considered in patients with vascular abnormalities. vEDS has a variable clinical presentation and often goes unrecognized, even though it is related to life-threatening complications and a shortened life expectancy. Diagnosis confirmed by genetic testing is crucial to determining appropriate surveillance, prevention, treatment, and genetic counseling.

Atypical Streptococcal Meningitis with Fatal Cerebrovascular Complications: A Case Report.

Bacterial meningitis is an infectious pathology that remains a public health challenge. The most frequent etiological agent is Streptococcus pneumoniae, which is also associated with higher rates of mortality and sequels. However, less is known about the clinical presentation of atypical non-pneumoniae streptococcal meningitis. Here, we studied a 23-year-old man with no medical background who presented with projectile vomiting, states of consciousness alteration, unilateral cranial nerve palsy, and meningeal signs. Neuroimaging showed tonsillar herniation, regions of empyema, right transverse and sigmoid sinuses thrombosis, and multiple arterial subcortical infarcts. Cerebrospinal fluid suggested bacterial infection; blood and abscess cultures were positive for Streptococcus constellatus. The patient received antibiotics with no clinical improvement. He deteriorated over the following days, the abolishment of brainstem reflexes was observed, and brain death was declared. Streptococcal meningitis produced by atypical species is a potential cause of lethal cerebrovascular complications, even in immunocompetent patients.