An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities with mild muscle and brain involvement

DEMİR E., GÜCÜYENER K., Akturk A., TALİM B., Konus O., Del Bo R., ...More

NEUROMUSCULAR DISORDERS, vol.19, no.10, pp.692-695, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 10
  • Publication Date: 2009
  • Doi Number: 10.1016/j.nmd.2009.07.006
  • Journal Name: NEUROMUSCULAR DISORDERS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.692-695
  • Keywords: MEB, Severe eye abnormalities, Mild phenotype, POMGNT1 MUTATIONS, SPECTRUM
  • Hacettepe University Affiliated: Yes

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. (c) 2009 Elsevier B.V. All rights reserved.