[Malformations of cortical development and their clinical repercussions in a series of 144 cases]
I Pascual Castroviejo1, S I Pascual Pascual, J Via o
1Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, España. pascas@inves.es
Insights
This study details brain cortical development disorders in 144 children, identifying polymicrogyria and lissencephaly as common conditions. Advanced imaging is crucial for diagnosis, while genetic understanding is key for future prevention.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatric Neurology
Context:
- Brain cortical development disorders are complex congenital conditions.
- Accurate diagnosis and classification are essential for patient management.
- Understanding the genetic underpinnings is critical for potential prevention strategies.
Purpose:
- To investigate the spectrum of brain cortical development disorders in a pediatric population.
- To correlate clinical, imaging, and evolutionary data for diagnosis.
- To explore the origins and classification of these malformations.
Summary:
- A series of 144 children (newborn to 12 years) underwent clinical and advanced imaging (MR, 3DMR) evaluation.
- Diagnoses included polymicrogyria (61), lissencephaly (22), eschizencephaly (16), heterotopia (16), and cortical dysplasia (9), among others.
- Common associated anomalies were mental retardation, motor deficits, and epilepsy.
Impact:
- Advanced neuroimaging is pivotal for diagnosing diverse cerebral malformations.
- Identifying specific causative genes is crucial for precise classification and targeted prevention.
- This research aids in understanding and managing pediatric brain malformations.
Objective:
To show the disorders of the brain cortical development and the possible origin in base to a large series studied in a Pediatric Neurology service.
Patients And Methods:
A series of 144 children with ages ranging between newborn and 12 years was studied from the clinic, image (MR, 3DMR) and evolutive point of views.
Results:
The diagnosis was: polymicrogyria in 61 cases, lissencephaly in 22, eschizencephaly in 16, heterotopia in 16, cortical dysplasia in 9, hemimegalencephaly in 8, cobblestone in 7, sublobar dysplasia in 3, and 'double cortex' in 2. Mental retardation, motor disorders and epilepsy were the most important anomalies.
Conclusions:
Actually, the image is the most important study to make the diagnosis of every type of cerebral malformation. However, to know the specific gene that origin every disorder seems to be the most important thing to make the classification of every malformative type and the possible prevention of this pathology.
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