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Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.
Obstet Med
December 2024
Department of Anaesthetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Labrune syndrome is a rare neurological autosomal recessive condition characterised by leukoencephalopathy, cerebral calcification and parenchymal cysts. Pregnancy has not been previously reported in an individual with this condition. This case report details the pregnancy of a primiparous woman with Labrune syndrome and neurofibromatosis type 1 who experienced a seizure in the second trimester of pregnancy, but went on to deliver her baby at term with good outcome for mother and baby.
View Article and Find Full Text PDFSuspected Postpartum Depression Revealed to be CSF1R-Related Leukoencephalopathy: A Case Report.
Case Rep Neurol
October 2024
Department of Neurology, Hakodate Central General Hospital, Hakodate, Japan.
Introduction: This is a case of a 32-year-old woman who developed postpartum depression (PPD). She became anxious and depressive about caring for her child, and the Edinburgh Postnatal Depression Scale (EPDS) test showed a score of 9 at 2 weeks after delivery, and at 7 months postpartum, she presented with major melancholic depression followed by mild cognitive decline without any neurological symptoms except cluttering speech.
Case Presentation: Cerebral magnetic resonance imaging showed confluent fluid-attenuated inversion recovery hyperintensities in the periventricular and frontal deep white matter, with multiple spotty calcifications in the frontal white matter by cerebral CT.
Molecular Imaging with PET in the Assessment of Vascular Dementia and Cerebrovascular Disease.
PET Clin
January 2025
Department of Radiology, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
Vascular dementia (VaD) is a unique form of cognitive decline caused by impairment of blood flow to the brain. Atherosclerosis is strongly associated with VaD as plaque accumulation can lead to tissue hypoperfusion or stroke. VaD and atherosclerosis are both diagnosed relatively late in their disease courses, prompting the need for novel diagnostic approaches such as PET to visualize subclinical pathophysiologic changes.
View Article and Find Full Text PDFLeukoencephalopathy With Calcifications and Cysts.
Neurology
November 2024
From the Department of Neurology (F.J.J., H.E., J.O.-M.), University of Pennsylvania, Philadelphia; St. Luke's Neurology Associates (A.M.), Bethlehem, PA; and Division of Genetics and Metabolism (J.L.F.), Children's National Medical Center, Washington, DC.
Childhood-inherited white matter disorders with calcification.
Handb Clin Neurol
September 2024
Professor of Paediatric Neurology, University of Leeds, Leeds, United Kingdom; Department of Paediatric Neurology, Leeds Teaching Hospitals, Leeds, United Kingdom. Electronic address:
Article Synopsis
- Intracranial calcification (ICC) is a common sign in various neurological disorders, both genetic and acquired, often aiding in diagnosis.
- Key conditions linked to ICC include Aicardi-Goutières syndrome (AGS), Coats plus (CP), and leukoencephalopathy with calcifications and cysts (LCC), which exhibit distinct clinical and imaging characteristics.
- AGS is caused by mutations affecting interferon regulation, while LCC and CP are related to different genetic mutations but present similar neuroimaging patterns.
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