title: [Muscle-eye-brain disease. Presentation of one case with genetic study].
abstract: BACKGROUND
  The objective [corrected] is to present a case of muscle-eye-brain (MEB) disease with genetic study.
  
  
  METHODS
  We studied an affected male from the age of 7 months to 21 years. During this time, clinical, analytical, neurophysiological (EEG, EMG, visual evoked potential [VEP], electroretinogram [ERG]), image (CT, MR), cerebral biopsy and genetic studies were performed.
  
  
  RESULTS
  Severe visual acuity impairment with optic atrophy from the first months of life, abnormal VEP and ERG, CT and MR showing <<cobblestone complex>> image of the cerebral cortex and subcortical white matter with myelinating changes; the histologic study of the cerebral biopsy sample showed hypomyelinating lesions and migration changes. The patient is alive at 21 years of age. The genetic study confirmed the presence of two recessive mutations, c.1274G>C and c.1895+1_4delGTGA, within the POMGnT1 gene.
  
  
  CONCLUSIONS
  The patient shows typical clinical, neurophysiological, histological and genetic MEB features.
authors.affiliation: Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, Spain. IPCASTROVIEJO@terra.es
authors.forename: I
authors.initials: I
authors.lastname: Pascual-Castroviejo
authors.forename: S I
authors.initials: SI
authors.lastname: Pascual-Pascual
authors.forename: M
authors.initials: M
authors.lastname: Gutiérrez-Molina
authors.forename: A
authors.initials: A
authors.lastname: Saarinen
authors.forename: T H
authors.initials: TH
authors.lastname: Joensuu
authors.forename: M
authors.initials: M
authors.lastname: Bayés
authors.forename: B
authors.initials: B
authors.lastname: Cormand
mesh_terms: D000328:Adult; D001284:Atrophy / Q000150:complications / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome; D014786:Vision Disorders / Q000150:complications / Q000235:genetics*
chemical_list: D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase