Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome.

Down syndrome, also known as Trisomy 21, is a genetic disorder associated with mild-to-moderate intellectual disability, delays in growth, and characteristic facial features. A wide range of ocular complications are seen in children with Down syndrome, including strabismus, nystagmus, refractive errors, congenital cataracts, the presence of keratoconus, and decreased visual acuity. Early ophthalmic examination is needed for early diagnosis and treatment in patients.

Pearls & Oy-sters: -Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis.

-related leukoencephalopathy is an autosomal dominant neurologic disorder causing microglial dysfunction with a wide range of neurologic complications, including motor dysfunction, dementia, and seizures. This case report highlights an unusual presentation of -related leukoencephalopathy with radiographic spinal cord involvement initially diagnosed as multiple sclerosis. This case highlights the importance of considering adult-onset neurogenetic disorders in the setting of white matter disease.

Microenvironmental Landscape of Human Melanoma Brain Metastases in Response to Immune Checkpoint Inhibition.

Melanoma-derived brain metastases (MBM) represent an unmet clinical need because central nervous system progression is frequently an end stage of the disease. Immune checkpoint inhibitors (ICI) provide a clinical opportunity against MBM; however, the MBM tumor microenvironment (TME) has not been fully elucidated in the context of ICI. To dissect unique elements of the MBM TME and correlates of MBM response to ICI, we collected 32 fresh MBM and performed single-cell RNA sequencing of the MBM TME and T-cell receptor clonotyping on T cells from MBM and matched blood and extracranial lesions.

Chyluria-a review of literature and a modified sclerotherapy regimen.

Chyluria, described as passage of milky white urine, has been recognized as a urological manifestation of the lymphatic system due to abnormal connection between the blocked and dilated lymphatics and the renal pelvicaliceal systems. We report the case of a 36-year-old female from an endemic area of filariasis in India who presented with chyluria. In addition to medical therapy, intermittent sclerotherapy of renal pelvis with 0.

Wilhelm Uhthoff and Uhthoff's phenomenon.

Wilhelm Uhthoff, known for his contributions to both neurology and neuro-ophthalmology, was a German ophthalmologist who specialized in neurologic disorders. The eponym "Uhthoff's phenomenon" was first used to describe the reversible, transient blurring of vision in patients with multiple sclerosis during exercise. Subsequently, it was discovered that this neurologic sign not only was triggered by physical exertion but also by other homeostatic disruptions such as hot baths, menstruation, and high external temperatures.