Niemann-Pick group of diseases are rare lysosomal storage disorders. The clinical phenotype is variable. We report a child who first time presented with tremors of tongue and tremors of one side of the body. On examination child had hemiparesis and hepatosplenomegaly. Bone marrow examination shows storage cells suggestive of Niemann-Pick cells and enzyme assay confirmed the diagnosis.
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http://dx.doi.org/10.1007/s13312-012-0196-0 | DOI Listing |
Nat Immunol
January 2025
Marc and Jennifer Lipschultz Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Maturation of conventional dendritic cells (cDCs) is crucial for maintaining tolerogenic safeguards against auto-immunity and for promoting immunogenic responses to pathogens and cancer. The subcellular mechanism for cDC maturation remains poorly defined. We show that cDCs mature by leveraging an internal reservoir of cholesterol (harnessed from extracellular cell debris and generated by de novo synthesis) to assemble lipid nanodomains on cell surfaces of maturing cDCs, enhance expression of maturation markers and stabilize immune receptor signaling.
View Article and Find Full Text PDFFront Pediatr
January 2025
Division of Metabolic Diseases and Hepatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase, leading to sphingomyelin accumulation and multi-organ damage. ASMD presents a broad phenotypic spectrum with a continuum of severity, making it challenging to predict the phenotype in very young children and differentiate between acute and chronic neurovisceral disease. No disease-specific treatments existed for ASMD.
View Article and Find Full Text PDFMov Disord Clin Pract
January 2025
Movement Disorders Clinic, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Cell Host Microbe
January 2025
Department of Pathology, Microbiology, and Immunology, School of Veterinary Medicine, University of California, Davis, CA 95616, USA. Electronic address:
Evidence suggests that bats are important hosts of filoviruses, yet the specific species involved remain largely unidentified. Niemann-Pick C1 (NPC1) is an essential entry receptor, with amino acid variations influencing viral susceptibility and species-specific tropism. Herein, we conducted combinatorial binding studies with seven filovirus glycoproteins (GPs) and NPC1 orthologs from 81 bat species.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia.
Niemann-Pick disease (NPD) is an autosomal recessive disease caused by deficient lysosomal enzyme or faulty cholesterol transport. A 9-year-old male patient presented with 6 years of abdominal swelling, previously treated as tuberculosis. He exhibited hepatosplenomegaly, delayed growth, and pancytopenia.
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