A Novel Heterozygous Pathogenic Mutation of PPP2RIA Gene in a Pediatric Encephalopathy Patient: A Case Report.
Encephalopathy is a syndrome of overall brain dysfunction with unknown causes despite its well-recognized etiology. This study reports clinical laboratory, radiological, and magnetic resonance imaging (MRI) findings as well as wholeexome sequencing (WES) of a female patient aged 19 months and 7 days...
| Publicado en: | Journal of Advances in Medical & Biomedical Research Vol. 31; no. 149; pp. 612 - 617 |
|---|---|
| Autores principales: | , |
| Formato: | case study diagnostic images research randomized controlled trial Journal Article |
| Publicado: |
Zanjan University of Medical Sciences & Health Services
Nov/Dec2023
|
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=176258050&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 176258050 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 26766264 N5MJ jtl: Journal of Advances in Medical & Biomedical Research issn: 26766264 maglogo: N pubinfo: dt: Nov/Dec2023 vid: 31 iid: 149 pid: 65276 pub: Zanjan University of Medical Sciences & Health Services artinfo: ui: 176258050 176258050 176258050 10.30699/jambs.31.149.612 176258050 ppf: 612 ppct: 5 formats: fmt: @attributes: type: P tig: atl: A Novel Heterozygous Pathogenic Mutation of PPP2RIA Gene in a Pediatric Encephalopathy Patient: A Case Report. aug: au: Bakhtiary, Hassan Heidari, Narges affil: Dept. of Pediatrics, School of Medicine, Ayatollah Mousavi Hospital, Zanjan University of Medical Sciences, Zanjan, Iran. sug: subj: Mutation Genes Brain Diseases Diagnosis Magnetic Resonance Imaging Brain Diseases Epidemiology Brain Diseases Etiology Female Infant Human Iran Tomography, X-Ray Computed Anemia Diagnosis Cerebrospinal Fluid Blood Sedimentation C-Reactive Protein Cerebral Edema Diagnosis Sequence Analysis Double-Blind Studies Randomized Controlled Trials Seizures Prevention and Control Treatment Outcomes Seizures Therapy Infant: 1-23 months Female ab: Encephalopathy is a syndrome of overall brain dysfunction with unknown causes despite its well-recognized etiology. This study reports clinical laboratory, radiological, and magnetic resonance imaging (MRI) findings as well as wholeexome sequencing (WES) of a female patient aged 19 months and 7 days with encephalopathy. To this end, the documented files of the hospitalized encephalopathy patients in Ayat Allah Mosavi hospital (Zanjan, Iran), referred from Khodabandeh city, Zanjan, Iran, were investigated. The initial symptoms, laboratory tests, computerized tomography (CT) scans, MRI, WES, and the course of disease were reported. The laboratory examination revealed mild anemia, and the normal range of the CSF, ESR, and CRP. Brain CT indicated brain edema while the MRI analysis of the brain revealed hypersignality. The c. 352G>A heterozygote variant was diagnosed in the PPP2RIA gene in exon four of chromosome 19. According to the observations, the frequency of this disorder was higher in this region of Zanjan province than other areas. The limitation of this study such as lack of access to the patients or biological samples of other similar patients hindered further evaluation. Hence, comprehensive research must be conducted to reveal the underlying etiology. pubtype: Academic Journal doctype: case study diagnostic images research randomized controlled trial Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|