A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics.
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.
Fahnehjelm
K T
KT
Department of Clinical Science, Karolinska Institutet, Huddinge University Hospital, Sweden. kristina.fahnehjelm@klinvet.ki.se
Ygge
J
J
Engman
M L
ML
Mosskin
M
M
Santavuori
P
P
Malm
G
G
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