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Hyper-immunoglobulin (Ig) M syndrome is a congenital immunodeficiency disorder characterized by increased serum IgM with low serum IgG, IgA, and IgE. We report the case of a 6-year-old boy with hyper-IgM syndrome as an underlying disease who showed progressive multifocal leukoencephalopathy findings on brain magnetic resonance imaging after visiting the hospital due to left upper extremity muscle weakness, gait disturbance, and speech impairment. At the time of hospitalization, he was treated with steroids and intravenous immunoglobulin, and his condition improved somewhat, but 6 months later, he visited the hospital with rapid deterioration.
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http://dx.doi.org/10.12786/bn.2022.15.e32 | DOI Listing |
Eur J Case Rep Intern Med
August 2025
Department of Internal Medicine, Dubai Hospital, Dubai Health, Dubai, Dubai, United Arab Emirates.
Introduction: Primary central nervous system vasculitis (primary CNS vasculitis) is a rare inflammatory disorder that affects small-to-medium-sized cerebral vessels, often leading to recurrent strokes. Diagnosis is vague due to non-specific neurological symptoms. Imaging findings, cerebrospinal fluid (CSF) analysis and exclusion of systemic vasculitis are essential for diagnosis.
View Article and Find Full Text PDFClin Infect Dis
September 2025
Unit of Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Background: Progressive Multifocal Leukoencephalopathy (PML) is a severe demyelinating disease caused by JC polyomavirus (JCV), affecting immunocompromised individuals. We describe PML demographic, clinical, radiological and laboratory characteristics and survival over time and according to underlying condition in a large retrospective patient cohort.
Methods: This is a retrospective cohort including Italian PML patients observed between 1987 and 2024, with known year of diagnosis and underlying disease.
Vestn Oftalmol
September 2025
Krasnov Research Institute of Eye Diseases, Moscow, Russia.
Primary open-angle glaucoma (POAG) is characterized by chronic progressive damage to the retinal ganglion cell layer (GCL) and their axons, leading to gradual visual function loss. Currently, the gold standards for structural and functional assessment of the retina in glaucoma are static automated perimetry (SAP) and optical coherence tomography (OCT). However, in clinical practice, data from SAP and OCT may be insufficient to reliably determine the stage of glaucomatous optic neuropathy, monitor its progression, or differentiate it from other causes of visual dysfunction.
View Article and Find Full Text PDFClin Case Rep
September 2025
Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran.
Pyridoxine-dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine. We present the case of an 11-day-old female neonate with a history of refractory multifocal seizures beginning on day three of life, accompanied by hepatomegaly, metabolic acidosis, elevated serum ammonia and lactate, and abnormal liver function tests. Despite multiple antiepileptic and metabolic treatments, seizures persisted, and the infant developed progressive metabolic disturbances.
View Article and Find Full Text PDFFront Immunol
September 2025
Department of Clinical Oncology, University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Background: Neoantigen-based vaccines show promising therapeutic potential in solid tumors such as melanoma, GBM, NSCLC, and CRC. However, clinical responses remain suboptimal in stage IV patients, due to ineffective T-cell function and high tumor burdens. To overcome these limitations, our study investigates a combination strategy using neoantigen peptide vaccines and precision critical lesion radiotherapy (CLERT), which delivers immunomodulatory doses to key tumor regions synergistically enhance immune activation and inhibit progression in multifocal stage IV patients.
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