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Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Semin Pediatr Neurol
December 2024
Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:
Chedíak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the Lysosomal Trafficking Regulator (LYST) gene, leading to defective lysosomal function in immune cells, melanocytes, and neurons. Clinically, CHS is characterized by a spectrum of symptoms, including immunodeficiency, partial oculocutaneous albinism, bleeding tendencies, neurodevelopmental deficits and progressive neurodegenerative symptoms. The severity of CHS correlates with the type of LYST mutation: the classic form, linked to nonsense or frameshift mutations, presents early in childhood with severe immune dysfunction, recurrent infections, and a high risk of hemophagocytic lymphohistiocytosis (HLH), a life-threatening hyperinflammatory state.
View Article and Find Full Text PDFBackground: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by a facial port-wine birthmark, leptomeningeal angiomatosis, and glaucoma. This case report highlights the challenges of diagnosing SWS when presenting with atypical features. Here, the authors present a 55-year-old man with an extrafacial port-wine stain and delayed-onset seizures, deviating from the classic triad.
View Article and Find Full Text PDFHansen's Disease: A Practical Update on a Neglected Globally Significant Infection.
Cureus
April 2024
Neurology, Mohammed VI University Medical Center, Marrakesh, Marrakesh, MAR.
Leprosy is a great mimicker. It is caused by and , together termed the complex. Leprosy can result in systemic manifestations; however, the neurocutaneous syndrome is the most classic.
View Article and Find Full Text PDFThe sentinel rash and neurocutaneous presentation of atrial myxoma: Case report and literature review.
Heliyon
February 2024
The Permanente Medical Group, Department of Neurology Kaiser Sacramento Medical Center 2025 Morse Avenue Sacramento, CA 95825, USA.
Introduction: Presenting symptoms of atrial myxoma are classically viewed as a triad of cardiac, embolic, and constitutional symptoms. Dermatologic manifestations are viewed as constitutional symptoms and have not received much attention.
Methods: Illustrative case presentation and literature review.
[Developmental cerebral thrombosed venous anomaly: findings in magnetic resonance imaging].
Rev Neurol
September 2023
Hospital Universitario Clínico San Cecilio, Granada, España.
Introduction: Developmental venous anomalies are the most common cerebral vascular malformations. They are usually incidental and benign, although about 40% are associated with cavernous malformations, and so it is essential to look for other associated vascular or neurocutaneous anomalies.
Case Report: We report the case of a 34-year-old pregnant woman who presented with seizures and dysarthria, and was submitted to an urgent cranial MRI scan.
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