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A case of Aicardi syndrome associated with a choroid plexus papilloma of the third and both lateral ventricles in a 15 months old baby girl is repported. The tumor was completely removed via three craniotomies. Reports of the literature with the association of choroid plexus papilloma and Aicardi syndrome are rare. We suggest that children diagnosed with Aicardi syndrome should routinely undergo imaging studies of the brain, such as computed tomography or magnetic resonance.
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http://dx.doi.org/10.1590/s0004-282x2002000600023 | DOI Listing |
Brain
September 2025
Central European Institute of Technology Masaryk University (CEITEC MU), 625 00 Brno, Czech Republic.
Mutations in the human ADAR gene encoding adenosine deaminase acting on RNA 1 (ADAR1) cause Aicardi-Goutières syndrome 6 (AGS6); a severe auto-inflammatory encephalopathy with aberrant interferon (IFN) induction. AdarΔ2-13 null mutant mouse embryos lacking ADAR1 protein die with high levels of IFN-stimulated gene (ISG) transcripts. In Adar Mavs double mutants also lacking the Mitochondrial antiviral signaling (MAVS) adaptor, the aberrant IFN induction is prevented.
View Article and Find Full Text PDFGenes (Basel)
July 2025
IRCCS Mondino Foundation, 27100 Pavia, Italy.
Background: Aicardi-Goutières Syndrome (AGS) is a rare neuroinflammatory condition characterized by early-onset symptoms that extend outside the nervous system. Due to the rarity of the disease, the pathogenesis is not well understood, and its diagnosis and treatment remain elusive. We recently demonstrated mitochondrial abnormalities and increased reactive oxygen species (ROS) levels in lymphoblastoid cell lines (LCLs) derived from - and -mutated AGS patients.
View Article and Find Full Text PDFBMJ Case Rep
August 2025
Peiatric Radiology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Krabbe disease is an autosomal recessive, rare affliction characterised by progressive demyelination with neurodegeneration and peripheral nerve involvement. This report describes unique presentations in two children with cerebral calcifications. A female infant born to non-consanguineous parents presented with posturing and tightening of limbs, multiple paroxysmal events, loss of attained milestones and feeding difficulty.
View Article and Find Full Text PDFJ Neuroinflammation
August 2025
Department of Developmental Cell Biology, Key Laboratory of Cell Biology, Ministry of Public Health, and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang, 110122, China.
Cystatin F is an endogenous cysteine protease inhibitor that belongs to the type II cystatin family. It has several unique characteristic structures that determine some of its specific functions. Cystatin F is expressed predominantly in peripheral immune cells and in the microglia of the central nervous system (CNS).
View Article and Find Full Text PDFPediatr Neurol
October 2025
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
Background: Aicardi-Goutières syndrome (AGS) is a rare monogenic leukodystrophy belonging to type I interferonopathies caused by alterations in one of nine genes. Among them, homozygous RNASEH2B:c.529G>A(p.
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