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MRI of a family with focal abnormalities of gyration
L Muntaner1, J J Pérez-Ferrón, M Herrera
1Department of Radiology, Son Dureta University Hospital, Palma de Mallorca, Spain.
Abstract:
Focal abnormalities of gyration (FAG) are developmental disorders that may occur in isolated patients or, as in the case being reported, as part of a familial disorder. Analysis of individuals in a family spanning three generations was carried out using MRI. Abnormalities, present in all members of generations II and III, included focal cortical dysplasia (three patients), focal cortical infolding (two patients) and schizencephaly (one patient); associated minor anomalies, such as white matter abnormalities, were seen in the remaining three members of generations II and III. MRI recognition of FAG in the family being reported proved useful in defining their phenotypical expression and providing proper counselling for individual family members.
Insights
Focal abnormalities of gyration (FAG) are rare developmental brain disorders. This study highlights FAG within a three-generation family, demonstrating its varied presentation and the utility of MRI in diagnosis and genetic counseling.
Area of Science:
- Neurology
- Developmental Biology
- Medical Imaging
Background:
- Focal abnormalities of gyration (FAG) are a group of rare developmental brain disorders.
- These abnormalities can occur in isolation or as part of a familial condition.
- Understanding the genetic and phenotypic spectrum of FAG is crucial for diagnosis and management.
Observation:
- A three-generation family exhibiting FAG was investigated using Magnetic Resonance Imaging (MRI).
- All affected members across generations II and III displayed various brain malformations.
- Specific observations included focal cortical dysplasia, focal cortical infolding, and schizencephaly.
Findings:
- MRI successfully identified diverse FAG phenotypes within the family, including focal cortical dysplasia, infolding, and schizencephaly.
- Associated findings such as white matter abnormalities were also noted in some affected individuals.
- The study highlights the utility of MRI in characterizing the phenotypic spectrum of familial FAG.
Implications:
- MRI is a valuable tool for diagnosing and delineating the phenotypic expression of FAG in familial contexts.
- Accurate identification of FAG subtypes through imaging aids in providing precise genetic and clinical counseling.
- This research contributes to a better understanding of the inheritance and presentation of FAG, informing future diagnostic and therapeutic strategies.