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Cheryl Longman, MBChB; Eugenio Mercuri, MD; Frances Cowan, PhD; Joanna Allsop, DCR(R); Martin Brockington, BSc; Cecilia Jimenez-Mallebrera, PhD; Sailesh Kumar, DPhil; Mary Rutherford, MD; Tatsushi Toda, PhD; Francesco Muntoni, MD

Arch Neurol. 2004;61:1301-1306.

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.

Design  Case report.

Patient  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.

Conclusion  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.

Author Affiliations: Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, England (Ms Longman, Drs Mercuri, Jimenez-Mallebrera, and Muntoni and Mr Brockington); the Department of Child Neurology, Catholic University, Rome, Italy (Dr Mercuri); the Departments of Paediatrics (Dr Cowan) and Magnetic Resonance Imaging (Dr Rutherford and Ms Allsop) Hammersmith Hospital, London; the Center for Fetal Care, Queen Charlotte’s & Chelsea Hospital, London (Dr Kumar); and the Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate School of Medicine, Osaka, Japan (Dr Toda).

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