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.

Major depression associated with a levonorgestrel-releasing intrauterine system mimicking frontotemporal dementia: a case report.

This case illustrates the adverse cognitive and affective effects associated with the use of an intrauterine hormonal contraceptive, which could be confused with symptoms of early onset dementia. We present a case of a 42-year-old woman diagnosed with seronegative spondyloarthropathy who subsequently developed anxiety and depressive symptoms after the implantation of a Levonorgestrel-Releasing Intrauterine System (LNG-IUS). Three years later, she began to experience memory and attentional failures, refractory pain, and severe depression. The progression of psychiatric symptoms led to a diagnosis of bipolar affective disorder and treatment with antidepressants and anxiolytics. Due to cognitive and psychiatric symptoms, autoimmune encephalitis was considered, but no improvement was shown with treatment. Early onset dementia was suspected, and a brain PET scan revealed frontal lobe hypometabolism. An adverse effect of LNG-IUS was considered; after its removal, mood and cognitive function improvements were observed. This case report emphasizes the importance of considering organic causes of unexplained psychiatric manifestations and highlights the potential impact of hormonal interventions on mental health.