title: Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease.
abstract: 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.
  
  
  CONCLUSIONS
  • 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.
authors.affiliation: Departments of Diagnostic Radiology, Mansoura Faculty of Medicine, Mansoura University, Mansoura, Egypt, 35512, arazek@mans.edu.eg.
authors.forename: Ahmed Abdel Khalek Abdel
authors.initials: AA
authors.lastname: Razek
authors.forename: Ahmed
authors.initials: A
authors.lastname: Abdalla
authors.forename: Nahed Abdel
authors.initials: NA
authors.lastname: Gaber
authors.forename: Abeer
authors.initials: A
authors.lastname: Fathy
authors.forename: Ahmed
authors.initials: A
authors.lastname: Megahed
authors.forename: Tarek
authors.initials: T
authors.lastname: Barakat
authors.forename: Mona Abdel
authors.initials: MA
authors.lastname: Latif Alsayed
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D015415:Biomarkers / Q000032:analysis*; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D001923:Brain Chemistry; D002675:Child, Preschool; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005838:Genotype; D006801:Humans; D007223:Infant; D008055:Lipids / Q000032:analysis; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D011446:Prospective Studies; D011522:Protons; D015203:Reproducibility of Results
chemical_list: D015415:Biomarkers; D008055:Lipids; D011522:Protons; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline