title: A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics.
abstract: OBJECTIVE
  To describe a child with Muscle-Eye-Brain disease (MEB), one of three types of congenital muscular dystrophy associated with ocular abnormalities.
  
  
  METHODS
  Case report.
  
  
  RESULTS
  The child showed severe visual impairment due to progressive myopia and retinal degeneration, a pachygyria-type of migration disorder of the brain with a nodular cortical surface, i.e. cobblestone cortex, as well as muscular weakness and severe mental retardation.
  
  
  CONCLUSIONS
  Ophthalmological assessments are important to help to diagnose and follow children with congenital muscular dystrophy.
authors.affiliation: Department of Clinical Science, Karolinska Institutet, Huddinge University Hospital, Sweden. kristina.fahnehjelm@klinvet.ki.se
authors.forename: K T
authors.initials: KT
authors.lastname: Fahnehjelm
authors.forename: J
authors.initials: J
authors.lastname: Ygge
authors.forename: M L
authors.initials: ML
authors.lastname: Engman
authors.forename: M
authors.initials: M
authors.lastname: Mosskin
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
authors.forename: G
authors.initials: G
authors.lastname: Malm
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities*; D005074:Evoked Potentials, Visual; D005124:Eye Abnormalities / Q000175:diagnosis*; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D001523:Mental Disorders / Q000175:diagnosis; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis*; D009216:Myopia / Q000175:diagnosis; D012162:Retinal Degeneration / Q000175:diagnosis