Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.
BACKGROUND
Muscle-eye-brain disease (MEB) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities, and type II lissencephaly. Previous reports of brain abnormalities on magnetic resonance images (MRIs) in MEB have been in children older than 1 year.


OBJECTIVE
To describe serial antenatal and postnatal brain MRIs in a child with MEB.


METHODS
Case report.


METHODS
We report a 2-year-old white boy with genetically confirmed MEB. Antenatal MRIs at 25 and 35 weeks' gestation showed posterior ventriculomegaly but no cortical dysplasia. A postnatal brain MRI at age 1 week showed frontal cortical dysplasia and abnormal signal intensity within the frontal white matter. A brain MRI at 8 months showed bilateral frontoparietal polymicrogyria. All images demonstrated flattening of the pons and mild hypoplasia of the inferior vermis. The child had no weakness, and muscle involvement was only suspected when the serum creatine kinase level was found to be elevated at age 8 months.


CONCLUSIONS
Cortical dysplasia in MEB may not be evident until several postnatal months; therefore, if MEB is suspected, brain MRI performed in the first few months of life should be interpreted with caution.
Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, England.
Cheryl
C
Longman
Eugenio
E
Mercuri
Frances
F
Cowan
Joanna
J
Allsop
Martin
M
Brockington
Cecilia
C
Jimenez-Mallebrera
Sailesh
S
Kumar
Mary
M
Rutherford
Tatsushi
T
Toda
Francesco
F
Muntoni
D001921:Brain / Q000002:abnormalities / Q000473:pathology*; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D011296:Prenatal Diagnosis / Q000379:methods*