Complex Cortical Dysplasia With Other Brain Malformations
Caused by changes in genes for microtubules, the cell's internal scaffolding, which guide nerve cells to their place in the developing brain. These include TUBB2B and KIF26A; KIF26A changes affect both copies and are recessive.
Tünetek és jelek
Brain MRI shows an irregular cortex, such as many small folds (polymicrogyria), often with differences in the basal ganglia, corpus callosum, brainstem or cerebellum. Developmental delay, intellectual disability and seizures are associated with these malformations, and small head size (microcephaly) can also occur.
Mit változtat a diagnózis
Care includes seizure treatment, developmental, physiotherapy and educational support, and monitoring of feeding and eye movements. Genetic counselling helps clarify recurrence risk, and for KIF26A carrier testing is available for relatives.
Szintén szereplő specifikus formák
17 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- bilateral frontoparietal polymicrogyria
- complex cortical dysplasia with other brain malformations 1
- complex cortical dysplasia with other brain malformations 2
- complex cortical dysplasia with other brain malformations 3
- complex cortical dysplasia with other brain malformations 4
- complex cortical dysplasia with other brain malformations 5
- complex cortical dysplasia with other brain malformations 6
- complex cortical dysplasia with other brain malformations 7
- cortical dysplasia, complex, with other brain malformations 10
- cortical dysplasia, complex, with other brain malformations 11
- cortical dysplasia, complex, with other brain malformations 12
- cortical dysplasia, complex, with other brain malformations 13
- cortical dysplasia, complex, with other brain malformations 9
- lissencephaly due to TUBA1A mutation
- pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
- polymicrogyria with optic nerve hypoplasia
- polymicrogyria, bilateral perisylvian, autosomal recessive
