Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon condition of unknown etiology occurring in children and adults. Pathological findings include obliterative hyalinosis of the small vessels, myelin loss, intense gliosis, Rosenthal fiber formation, microcalcifications, and hemosiderin deposits. Herein we report a 55-year-old man with LCC documented 10 years ago, in whom we examined brain perfusion by pseudocontinuous arterial spin labeling technique. We demonstrated diffused hypoperfusion of the affected white matter (WM) and of the subcortical gray matter (GM) and cortical GM in the patient in comparison to a group of healthy control subjects, using both qualitative evaluation and region of interest analysis. WM and subcortical GM hypoperfusion reflects the known distribution of LCC microangiopathy. We speculate that cortical hypoperfusion may be related to cerebral atrophy or may reflect deafferentation secondary to severe leukoencephalopathy, and may possibly contribute to severe motor and cognitive impairment. Further studies addressing cerebral blood flow in LCC are necessary.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2016.04.030 | DOI Listing |
J Mol Neurosci
January 2025
Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science/Peking Union Medical College, Beijing, 100730, China.
CSF1R-related leukoencephalopathy (CSF1R-L) and AARS2-related leukoencephalopathy (AARS2-L) were two disease entities sharing similar phenotype and even pathological changes. Although clinically, radiologically, and pathologically similar, they were caused by mutation of two different genes. As the rarity of the two diseases, the differential diagnosis of them was difficult.
View Article and Find Full Text PDFObstet 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 PDFCase 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.
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 PDFNeurology
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.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!