title: A clinical and magnetic resonance spectroscopy study of a brain tumor in a patient with segmental neurofibromatosis.
abstract: BACKGROUND
  Segmental neurofibromatosis 1 (segmental NF-1) is a rare genodermatosis caused by somatic mutations in the NF-1 gene. It consists of localized characteristic skin lesions. A serial study using magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) of a brain tumor in a 16-year-old patient with segmental NF-1 is reported.
  
  
  METHODS
  A 16-year-old boy with congenital dorsal scoliosis and segmental NF-1 was evaluated for bilateral optic atrophy. Neurological examination showed an isolated tetra pyramidal syndrome. The cerebral MRI showed a bilateral brain lesion involving the basal ganglia, optic pathways, temporal lobes, and the midbrain. Serial MRSs showed a decreased N-acetylaspartate (NAA)/creatine ratio and increased choline/creatine ratio. An increase in the myoinositol (MYO)/creatine ratio and the presence of a lipid/lactate peak were also recorded. A neuroimaging follow-up with MRI and MRS performed 2 years later showed similar findings.
  
  
  CONCLUSIONS
  We describe an MRS study of a brain tumor in a patient with segmental NF-1 for the first time. The MRS study showed similar findings, described earlier in rare studies of patients with the classic form of NF-1. MRS is a noninvasive technique for detecting the presence of tumor tissue in the brain through its metabolic activity. MRS plays an important role in clinical studies and it can be used to differentiate malignant and nonmalignant brain lesions from normal brain tissue.
authors.affiliation: Department of Neurology, University Hospital of Monastir, 5000 Monastir, Tunisia. saber_tn2002@yahoo.fr
authors.forename: S
authors.initials: S
authors.lastname: Chebel
authors.forename: S
authors.initials: S
authors.lastname: Ben Yahia
authors.forename: A
authors.initials: A
authors.lastname: Boughammoura-Bouatay
authors.forename: R
authors.initials: R
authors.lastname: Salem
authors.forename: M
authors.initials: M
authors.lastname: Golli
authors.forename: M
authors.initials: M
authors.lastname: Khairallah
authors.forename: M
authors.initials: M
authors.lastname: Frih-Ayed
mesh_terms: D000293:Adolescent; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001923:Brain Chemistry / Q000502:physiology; D001932:Brain Neoplasms / Q000378:metabolism / Q000473:pathology*; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D006801:Humans; D007773:Lactates / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D017253:Neurofibromatoses / Q000378:metabolism / Q000473:pathology*; D012600:Scoliosis / Q000150:complications
chemical_list: D007773:Lactates; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline