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Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome
R Guerrini1, A J Barkovich, L Sztriha
1Division of Neurology, King's College, University of London, UK. R.Guerrini@iop.kcl.ac.uk
Background And Objective:
Polymicrogyria is a brain malformation characterized by abnormal cortical lamination, excessive cortical folding, and fusion of the cortical molecular layer. Two distinct bilateral localized forms have been described: bilateral perisylvian polymicrogyria, which has proved to be genetically heterogeneous, and bilateral parasagittal parieto-occipital polymicrogyria, which has been described only in sporadic patients. We describe 13 patients with symmetric polymicrogyria of both frontal lobes back to the precentral sulcus: bilateral frontal polymicrogyria (BFP).
Methods:
Review of clinical records, brain MRI, and EEG results of 13 patients; correlation with other regional polymicrogyrias.
Results:
The abnormal cortex extended from the frontal poles anteriorly to the precentral gyrus posteriorly and to the frontal operculum inferiorly and was relatively symmetric in all 13 patients. All patients presented with developmental delay and mild spastic quadriparesis, but variably impaired language development (12/13), mental retardation (11/13), and epilepsy (5/13) also occurred. BFP was sporadic in 13 of 13 patients, but 2 of 13 had consanguineous parents.
Conclusions:
BFP extends the spectrum of the recognized bilateral symmetric regional polymicrogyria syndromes.
Insights
This study identifies bilateral frontal polymicrogyria (BFP), a rare brain malformation affecting both frontal lobes. BFP presents with developmental delay and spasticity, expanding the known spectrum of polymicrogyria syndromes.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Polymicrogyria is a brain malformation with abnormal cortical development.
- Bilateral perisylvian and parasagittal parieto-occipital polymicrogyria are known subtypes.
- This study focuses on a distinct bilateral frontal polymicrogyria (BFP).
Purpose of the Study:
- To describe the clinical and neuroimaging features of 13 patients with bilateral frontal polymicrogyria (BFP).
- To characterize the spectrum of BFP and its associated neurological deficits.
- To expand the understanding of regional polymicrogyria syndromes.
Main Methods:
- Retrospective review of clinical data, brain MRI, and EEG for 13 patients.
- Correlation of BFP findings with other regional polymicrogyria presentations.
- Analysis of clinical presentation, including developmental delay, motor, language, cognitive, and seizure disorders.
Main Results:
- Identified 13 patients with symmetric polymicrogyria affecting the frontal lobes.
- All patients exhibited developmental delay and mild spastic quadriparesis.
- Commonly associated features included impaired language (12/13), mental retardation (11/13), and epilepsy (5/13).
- BFP was sporadic in all cases, with two families reporting consanguinity.
Conclusions:
- Bilateral frontal polymicrogyria (BFP) represents a distinct clinical entity.
- BFP expands the spectrum of recognized bilateral symmetric regional polymicrogyria syndromes.
- Further research into the genetic and etiological factors of BFP is warranted.