Association of leukoencephalopathy, cerebral calcifications, and cysts (LCC) is a rare disorder that was recently described. To our knowledge, only 2 reports, including 3 patients in each, have been published in the literature to date. Herein, we report a 19-year-old man with LCC who had neurological symptoms beginning in late adolescence. Clinically, he had rare convulsive seizures, slowly progressive pyramidal symptoms, and normal intelligence. On radiological examination, there were progressive calcifications in the basal nuclei and the cerebral white matter, as well as parenchymal cysts and diffuse abnormal signals of the white matter on T2-weighted sequences on MR imaging. On histopathological examination, angiomatous changes and secondary gliosis were demonstrated.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7976097 | PMC |
Publication Analysis
Top Keywords
Similar Publications
[Genetic analysis of a child with Leukoencephalopathy with ataxia caused by a homozygous variant of CLCN2 gene and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Neurology, the Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, Hunan 410007, China.
Objective: To explore the clinical manifestations and genetic characteristics of a child with Leukoencephalopathy with ataxia (LKPAT) caused by a CLCN2 gene variant.
Methods: A retrospective analysis was conducted on the clinical data of a child admitted to Hunan Children's Hospital in June 2024 due to "intermittent convulsions for 13 days". Peripheral blood samples were collected from the child and his parents for whole exome sequencing, followed by Sanger sequencing validation and pathogenicity analysis of candidate variants.
[Effect of moxibustion on learning-memory ability in rats with vascular dementia based on hippocampal Mst1/NF-κB p65 pathway].
Zhongguo Zhen Jiu
January 2025
Affiliated Hospital of Nanjing University of Chinese Medicine/Jiangsu Provincial Hospital of TCM, Nanjing 210029, China; Key Laboratory of Acupuncture and Medicine Research of Ministry of Education, Nanjing University of Chinese Medicine, Nanjing 210023, Jiangsu Province.
Objective: To observe the effects of (transforming stasis and unblocking collaterals) moxibustion on learning-memory ability and hippocampal mammalian sterile 20-like kinase 1 (Mst1)/nuclear factor κB (NF-κB) p65 pathway related to inflammatory response in rats with vascular dementia (VD).
Methods: A total of 60 male Wistar rats of SPF grade were randomly divided into a sham operation group (12 rats) and a modeling group (48 rats). VD model was established by the method of modified bilateral common carotid artery permanent ligation in the modeling group.
Performance of Ultrasensitive Polymerase Chain Reaction Testing for JC Polyomavirus in Cerebrospinal Fluid Compared with Pathological Diagnosis of Progressive Multifocal Leukoencephalopathy.
Viruses
December 2024
Department of Pathology, National Institute of Infectious Diseases, Shinjuku-ku, Tokyo 162-8640, Japan.
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease caused by the JC polyomavirus (JCPyV). Based on the clinical criteria, PML is diagnosed via polymerase chain reaction (PCR) detection of JCPyV DNA in cerebrospinal fluid (CSF) in combination with neurological and imaging findings. Although the utility of CSF JCPyV testing using ultrasensitive PCR assays has been suggested, its potential requires further evaluation.
View Article and Find Full Text PDFTwo Novel Biallelic Variants in the Gene: The First Italian Case and a Literature Review.
Genes (Basel)
December 2024
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old girl presenting interstitial lung disease, supratentorial leukoencephalopathy with brain cysts, hepatic dysfunction, hypoalbuminemia, skin and joint hyperlaxity, growth retardation, and dysmorphic features.
View Article and Find Full Text PDFUnlabelled: The most frequent cause of nephritic syndrome in the pediatric population is acute post-infectious glomerulonephritis (PIGN). A rare complication is posterior reversible encephalopathy syndrome (PRES), characterized by subcortical vasogenic cerebral edema associated with variable neurological symptoms. The development of autoimmune hemolytic anemia is an atypical clinical presentation.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!