Publications by authors named "Marta B Santos"
Strokes are infrequent in younger adults, making diagnosis of their underlying causes challenging. Fabry disease, a rare genetic condition with a complex and not fully understood pathophysiology, is one potential cause. This report describes a 41-year-old woman with a history of glaucoma, recurrent uveitis, ischemic stroke affecting the posterior circulation, and sensorineural hearing loss.
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- Behçet's disease (BD) is a multisystem inflammatory condition that can impact the nervous system, sometimes referred to as neuro-Behçet.
- A 46-year-old woman with a history of BD was admitted for severe neck pain and neurological symptoms, leading to a brain MRI that indicated a possible diagnosis of neuro-Behçet.
- The patient was treated with corticosteroids and azathioprine, resulting in significant clinical improvement and resolution of the brain lesion, underscoring the need for precise diagnosis and timely treatment.
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- - A 79-year-old male was hospitalized due to chronic fatigue and respiratory issues, along with swelling and kidney and heart complications, following a recent SARS-CoV-2 vaccination and upper respiratory infection.
- - Laboratory tests indicated positive Epstein-Barr virus PCR and imaging revealed multiple enlarged lymph nodes, worsening existing conditions like polyserositis and hepatosplenomegaly.
- - Despite undergoing surgery to remove a lymphatic nodule diagnosed with human herpesvirus 8 multicentric Castleman disease and receiving aggressive treatment, the patient's condition rapidly deteriorated into multiorgan failure, ultimately leading to death.
Demyelination is a major contributor to the general decay of neural functions in children with Krabbe disease. However, recent reports have indicated a significant involvement of neurons and axons in the neuropathology of the disease. In this study, we have investigated the nature of cellular inclusions in the Krabbe brain.
View Article and Find Full Text PDFGloboid cell leukodystrophy (Krabbe disease) is a neurological disorder of infants caused by genetic deficiency of the lysosomal enzyme β-galactosylceramidase leading to accumulation of the neurotoxic metabolite 1-β-d-galactosylsphingosine (psychosine) in the central nervous system. Angiogenesis plays a pivotal role in the physiology and pathology of the brain. Here, we demonstrate that psychosine has anti-angiogenic properties by causing the disassembling of endothelial cell actin structures at micromolar concentrations as found in the brain of patients with globoid cell leukodystrophy.
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