A 30-year-old woman presented with rapidly progressive dementia 1 month after the coronavirus disease 2019 infection. Repeated CSF analysis showed extreme hypoglycorrhachia, while cultures, metagenomic next-generation sequencing, and cytopathology testing of CSF were negative. Laboratory investigations for possible etiologies revealed elevated blood ammonia and cancer antigen 125. Brain MRI demonstrated bilateral symmetric diffuse cortical lesions with mild hyperintensity on T1-weighted image and postcontrast enhancement. A more thorough history and specific examinations subsequently indicated an underlying etiology. This case provides an approach for evaluating young patients with rapidly progressive dementia, extreme hypoglycorrhachia, and diffuse CNS lesions, highlighting the importance of considering a broad differential diagnosis.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1212/WNL.0000000000209188 | DOI Listing |
Rev Med Liege
January 2025
Service de Pneumologie, CHU Liège, Belgique.
Idiopathic pulmonary arterial hypertension (iPAH) is a rare, rapidly progressive disease associated with high morbidity and mortality. It is characterized by endothelial dysfunction within the pulmonary vascular bed and gradually leads to an increase in the pulmonary vascular resistances. Its non-specific symptomatology delays the diagnosis and brings the most severe forms to right ventricular failure.
View Article and Find Full Text PDFNat Rev Neurol
January 2025
Department of Neuroscience, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.
Autologous haematopoietic stem cell transplantation (AHSCT) is a treatment option for relapsing forms of multiple sclerosis (MS) that are refractory to disease-modifying therapy (DMT). AHSCT after failure of high-efficacy DMT in aggressive forms of relapsing-remitting MS is a generally accepted indication, yet the optimal placement of this approach in the treatment sequence is not universally agreed upon. Uncertainties also remain with respect to other indications, such as in rapidly evolving, severe, treatment-naive MS, progressive MS, and neuromyelitis optica spectrum disorder (NMOSD).
View Article and Find Full Text PDFJ Infect Public Health
December 2024
Department of Pediatric Infectious Diseases, Ministry of National Guard-Health Affairs (MNGHA), King Abdullah Specialist Children Hospital, Riyadh, Saudi Arabia; King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City (KAMC), MNGHA, Riyadh, Saudi Arabia.
Necrotizing fasciitis is a potentially life-threatening infection that can lead to rapid muscular and fascial necrosis, often resulting in sepsis. In addition to the rapid disease progression, diagnosing this disease in children can be challenging as they cannot accurately communicate their symptoms. Spontaneous necrotizing fasciitis secondary to Clostridial infection has rarely been described in the literature but occurs in neutropenic patients with significant morbidity and mortality from myonecrosis and gas gangrene.
View Article and Find Full Text PDFNeurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFBlood Adv
January 2025
The University of Sydney, Sydney, Australia.
T-cell receptor (TCR) therapies are a promising modality for the treatment of cancers, with significant efforts being directed towards acute myeloid leukaemia (AML), a particularly challenging disease. Chimeric antigen receptor (CAR) T-cells targeting single surface antigens have shown remarkable efficacy for B-cell lymphoblastic leukaemia, lymphomas and multiple myeloma. However, AML presents formidable obstacles to the effectiveness of CAR T-cells due to the widespread expression of heterogenous leukaemia immunophenotypes and surface antigen targets additionally present on normal myeloid cells.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!