Abstract
Focal cortical dysplasias with balloon cells (FCD(IIb)) usually present with characteristic imaging and molecular features, that is, a transmantle sign on fluid-attenuated inversion recovery MRI and abundance of allelic variants of the tuberous sclerosis gene 1 (TSC1). Recently, we observed several mineralized lesions (n = 5) lacking this MRI pattern and which surprisingly turned out as FCD(IIb) upon neuropathological examination. These mineralized FCD(IIb) revealed an increased frequency of TSC2 allelic variants but not TSC1 (intron 31: 60% vs. 11% in controls; P = 0.0164, exon 41: 40% vs. 6.5% in controls; P = 0.0441). Mineralized FCD(IIb) have a favorable postsurgical outcome and need consideration in the presurgical differential diagnosis of calcified lesions associated with pharmacoresistant focal epilepsies.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Alleles
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Brain / abnormalities
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Brain / pathology
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Child
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Child, Preschool
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Diagnosis, Differential
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Epilepsy / diagnosis
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Epilepsy / genetics*
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Epilepsy / pathology
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Epilepsy / surgery
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Female
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Follow-Up Studies
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Humans
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Infant
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Male
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Malformations of Cortical Development / diagnosis
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Malformations of Cortical Development / genetics*
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Malformations of Cortical Development / pathology
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Malformations of Cortical Development / surgery
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Polymorphism, Genetic*
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Prognosis
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Seizures / diagnosis
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Seizures / genetics
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Seizures / pathology
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Seizures / surgery
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Treatment Outcome
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Tuberous Sclerosis Complex 1 Protein
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins / genetics*
Substances
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TSC1 protein, human
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TSC2 protein, human
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Tuberous Sclerosis Complex 1 Protein
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins