title: An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.
abstract: Muscle-eye-brain disease (MEB) is characterised by congenital muscular dystrophy, structural brain malformations and eye abnormalities. We report a MEB case whose presenting sign was congenital blindness. She was investigated primarily for eye abnormalities at onset. She had bilateral retinal detachment and microphthalmia. Mild axial hypotonia and motor retardation were attributed to cerebral disorder in another center. Muscle biopsy showed mild myopathic changes and significant alpha-dystroglycan deficiency. Analysis of the POMGnT1 showed a novel homozygous mutation 1814G>C, causing p.Arg605Pro change. This case expands the clinical spectrum of MEB with unusually severe eye abnormalities compared to mild skeletal muscle and brain involvement.
authors.affiliation: Department of Pediatric Neurology, Gazi University, Ankara, Turkey. ercdemir28@yahoo.com
authors.forename: Ercan
authors.initials: E
authors.lastname: Demir
authors.forename: Kivilcim
authors.initials: K
authors.lastname: Gucuyener
authors.forename: Aysima
authors.initials: A
authors.lastname: Akturk
authors.forename: Beril
authors.initials: B
authors.lastname: Talim
authors.forename: Oznur
authors.initials: O
authors.lastname: Konus
authors.forename: Roberto
authors.initials: R
authors.lastname: Del Bo
authors.forename: Serena
authors.initials: S
authors.lastname: Ghezzi
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D017354:Point Mutation; D017386:Sequence Homology, Amino Acid
chemical_list: D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase