Autoszomális recesszív
This form of heterotopia is caused by changes in both copies of EML1, a gene needed for the early brain stem cells that produce nerve cells. When it does not work, nerve cells are misplaced in a large, often ribbon-like band of grey matter beneath the cortex.
Tünetek és jelek
Children usually have a large head, epilepsy beginning in infancy or childhood, and moderate to severe developmental delay and intellectual disability. Brain imaging shows extensive heterotopia, often with partial or complete absence of the corpus callosum and abnormally formed lateral ventricles. Hydrocephalus occurs in about half of cases, and an overlying polymicrogyria-like cortical malformation is also seen.
Mit változtat a diagnózis
Management includes neurological follow-up and seizure treatment, which may need several medicines, together with developmental, educational and therapy support. Genetic counselling is recommended; parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier testing can be offered to relatives.
Vizsgált gének
Más néven
BH
