Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease.
Objective: To assess the clinical usefulness of proton magnetic resonance spectroscopy ((1)H-MRS) in children with neuronopathic Gaucher's disease (NGD).Methods: A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mea...
| Publicado en: | European Radiology Vol. 23; no. 11; pp. 3005 - 3012 |
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| Autores principales: | , , , , , , |
| Formato: | research Journal Article |
| Publicado: |
Springer Nature
Nov2013
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| 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=104103272&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104103272 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09387994 NPH jtl: European Radiology issn: 09387994 maglogo: N pubinfo: dt: Nov2013 vid: 23 iid: 11 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 104103272 NLM23783781 2012337692 10.1007/s00330-013-2924-9 NLM23783781 104103272 ppf: 3005 ppct: 7 formats: fmt: @attributes: type: P tig: atl: Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease. aug: au: Razek, Ahmed Abdel Khalek Abdel Abdalla, Ahmed Gaber, Nahed Abdel Fathy, Abeer Megahed, Ahmed Barakat, Tarek Latif Alsayed, Mona Abdel affil: Departments of Diagnostic Radiology, Mansoura Faculty of Medicine, Mansoura University, Mansoura, Egypt, 35512, arazek@mans.edu.eg. sug: subj: Biological Markers Analysis Brain Metabolism Biochemical Phenomena Gaucher Disease Diagnosis Magnetic Resonance Spectroscopy Aspartic Acid Analogs and Derivatives Aspartic Acid Analysis Brain Pathology Child, Preschool Choline Analysis Creatine Analysis Diagnosis, Differential Female Prospective Studies Gaucher Disease Gaucher Disease Metabolism Genotype Human Infant Lipids Analysis Male Protons Reproducibility of Results Child, Preschool: 2-5 years Infant: 1-23 months Female Male ab: Objective: To assess the clinical usefulness of proton magnetic resonance spectroscopy ((1)H-MRS) in children with neuronopathic Gaucher's disease (NGD).Methods: A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent (1)H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping.Results: There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = -0.682; P = 0.001) CONCLUSION: (1)H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping.Key Points: • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher's disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher's disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher's disease. pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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