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A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics
K T Fahnehjelm1, J Ygge, M L Engman
1Department of Clinical Science, Karolinska Institutet, Huddinge University Hospital, Sweden. kristina.fahnehjelm@klinvet.ki.se
Purpose:
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.
Conclusion:
Ophthalmological assessments are important to help to diagnose and follow children with congenital muscular dystrophy.
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