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Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease
Cheryl Longman1, Eugenio Mercuri, Frances Cowan
1Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, England.
Insights
Muscle-eye-brain disease (MEB) brain abnormalities, including cortical dysplasia, may not appear on MRI until months after birth. Early MRIs in suspected MEB cases require careful interpretation due to potential delayed presentation.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Muscle-eye-brain disease (MEB) is a rare autosomal recessive disorder.
- MEB presents with congenital muscular dystrophy, eye abnormalities, and type II lissencephaly.
- Prior brain imaging studies in MEB focused on children over one year old.
Observation:
- This case report details serial antenatal and postnatal brain MRIs in a child with genetically confirmed MEB.
- Antenatal MRIs showed posterior ventriculomegaly, but no cortical dysplasia.
- Postnatal MRIs revealed progressive cortical dysplasia and white matter changes, along with brainstem and cerebellar hypoplasia.
Findings:
- Cortical dysplasia in MEB can manifest several months after birth.
- Early postnatal MRIs may not reveal all characteristic brain abnormalities.
- Flattening of the pons and inferior vermis hypoplasia were consistently observed.
Implications:
- Caution is advised when interpreting early postnatal brain MRIs in suspected MEB cases.
- Delayed diagnosis of MEB is possible if relying solely on initial imaging.
- Understanding the temporal progression of MEB brain changes is crucial for accurate diagnosis and management.
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.
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