Schilder's disease is a rare and aggressive central nervous system demyelinating disorder that is typically monophasic and steroid responsive. Here, we present an unusual case of a teenager with Schilder's disease who was treated with corticosteroids and had a clinical and radiographic recurrence nearly one year after the initial presentation.
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Adrenoleukodystrophy.
Handb Clin Neurol
September 2024
Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, MA, United States. Electronic address:
X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene and characterized by impaired very long-chain fatty acid beta-oxidation. Clinically, male patients develop adrenal failure and progressive myelopathy in adulthood, although the age of onset and rate of progression are highly variable. In addition, 40% of male patients develop a leukodystrophy (cerebral ALD) before the age of 18 years.
View Article and Find Full Text PDFBaló concentric sclerosis: Literature review and report of two cases.
J Neuroimmunol
July 2024
UMIB-Unit for Multidisciplinary Research in Biomedicine, ICBAS-School of Medicine and Biomedical Sciences, University of Porto Porto Portugal, Portugal; ITR-Laboratory for Integrative and Translational Research in Population Health Porto Portugal, Portugal; Portuguese Brain Bank, Neuropathology Unit, Department of Neurosciences Centro Hospitalar, Universitário do Porto Porto, Portugal.
Background: Baló's concentric sclerosis (BCS) is a rare variant of multiple sclerosis characterized by unique pathological features of alternating demyelination and preserved myelin.
Objectives: To describe two cases of BCS, radiological and pathological findings and its clinical course.
Results: We report two distinct cases of BCS that presented with unique MRI findings suggestive of BCS, but with different clinical courses and responses to treatment.
The NAD Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease.
Int J Biol Sci
February 2024
Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.
Article Synopsis
- Alpers' syndrome is a severe neurodegenerative disorder often caused by mutations in the POLG gene, leading to issues like intractable epilepsy and developmental regression, with no current effective treatments.
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[TUMOR-LIKE EFFECT AS INITIAL PRESENTATION OF PEDIATRIC MULTIPLE SCLEROSIS].
Harefuah
December 2023
Multiple Sclerosis Center, Sheba Medical Center, Ramat-Gan and Sackler Faculty of Medicine; Tel-Aviv University, Tel-Aviv, Israel.
In both children and adults, magnetic resonance imaging of the brain in cases of multiple sclerosis (MS) has typical indications, where one of the key points for differentiating between demyelinating processes and place-taking processes is the fact that most of the lesions that appear in multiple sclerosis do not cause a mass effect or much edema around them. There are several uncommon subtypes of multiple sclerosis that can appear specifically in adolescents, presenting with a stormy clinical course and accompanied by brain lesions that resemble space-occupying lesions. These include Marburg disease, Balò's concentric sclerosis, and tumefactive MS.
View Article and Find Full Text PDFTumefactive Demyelination Lesions: Report on three cases.
Acta Neurol Taiwan
December 2024
Faculty of Medicine, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan, ROC; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, ROC; Brain Research Center, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan, ROC.
Purpose: Tumefactive demyelination (TD) lesion and its subtype Balo's concentric sclerosis (BCS), are rare manifestations of central nervous system demyelinating disease. Because of its rarity, physicians might hesitate in reaching a diagnosis or initiating steroid pulse therapy. This study aims at pinpointing the key neuroimaging features to distinguish TD lesions from surgical conditions, and illustrating the clinical outcomes of patients with TD lesions.
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