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.
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.
Authors: L Manganaro; S Savelli; A Francioso; M Di Maurizio; F Coratella; G Vilella; G Noia; A Giancotti; A Tomei; F Fierro; L Ballesio Journal: Radiol Med Date: 2009-09-05 Impact factor: 3.469
Authors: Cecilia Jimenez-Mallebrera; Silvia Torelli; Lucy Feng; Jihee Kim; Caroline Godfrey; Emma Clement; Rachael Mein; Stephen Abbs; Susan C Brown; Kevin P Campbell; Stephan Kröger; Beril Talim; Haluk Topaloglu; Ros Quinlivan; Helen Roper; Anne M Childs; Maria Kinali; Caroline A Sewry; Francesco Muntoni Journal: Brain Pathol Date: 2008-08-07 Impact factor: 6.508