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Pathognomonic Neuroimaging in MEGDEL Syndrome.
Indian J Pediatr
December 2024
Department of Dermatology, Kaya Clinic, Jubilee Hills, Above Krishna Pearl, Hyderabad, Telangana, 500033, India.
Pediatric opioid use-associated neurotoxicity with cerebellar edema (POUNCE) syndrome.
Clin Toxicol (Phila)
January 2025
Division of Medical Toxicology, Ronald O. Perelman Department of Emergency Medicine, NYU Grossman School of Medicine, New York, NY, USA.
Introduction: Unfortunately, children are not spared from the devastating effects of the ongoing opioid epidemic. In rare cases, young children exposed to opioids present with unique neuroimaging findings affecting the white matter, reminiscent of what was once seen with diacetylmorphine (heroin)-associated leukoencephalopathy. This constellation of findings is termed the pediatric opioid use-associated neurotoxicity with cerebellar edema (POUNCE) syndrome.
View Article and Find Full Text PDFPathology of rheumatoid meningitis: A report of 5 cases highlighting the importance of clinical correlation.
Ann Diagn Pathol
February 2025
Department of Pathology, University of Colorado Health Science Center, Anschutz Medical Campus, Aurora, CO, USA; Department of Neurosurgery, University of Colorado Health Science Center, Anschutz Medical Campus, Aurora, CO, USA; Department of Neurology, University of Colorado Health Science Center, Anschutz Medical Campus, Aurora, CO, USA.
Rheumatoid meningitis (RM) presents with sufficiently wide-ranging, but non-specific, symptoms and neuroimaging features of pachy- and/or leptomeningeal thickening that it may be indistinguishable from subacute infectious meningitis. RA diagnosis variably antedates RM and serological confirmation by rheumatoid factor and anti-citrullinated peptide antibodies may not be present preoperatively. Thus, meningeal biopsy may be undertaken.
View Article and Find Full Text PDFClinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q Biosynthesis Disorders.
Neurol Genet
December 2024
From the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Background And Objectives: Disorders of coenzyme Q (CoQ) biosynthesis comprise a group of 11 clinically and genetically heterogeneous rare primary mitochondrial diseases. We sought to delineate clinical, biochemical, and neuroimaging features of these disorders, together with outcomes after oral CoQ supplementation and the utility of peripheral blood mononuclear cell (PBMNC) CoQ levels in monitoring therapy.
Methods: This was a retrospective cohort study, registered as an audit at a specialist pediatric hospital (Registration Number: 3318) of 14 patients with genetically confirmed CoQ biosynthesis deficiency, including 13 previously unreported cases.
The phenotypic spectrum of syndromic optic atrophy associated with variants in : with reclassification of p.Val606Gly as a likely benign variant.
Ophthalmic Genet
November 2024
Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
Introduction: Wolfram syndrome due to bi-allelic variants in and mono-allelic Wolfram-like syndrome have variable ocular and syndromic associations. In this report, eight patients are described.
Methods: A retrospective observational case series with detailed ophthalmic and systemic phenotyping, optical coherence tomography (OCT), and neuroimaging.
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