Autoszomális recesszív
Caused by changes in both copies of the NRROS gene, which controls activation of the signalling molecule TGF-beta and is expressed by microglia, the brain's resident immune cells.
Tünetek és jelek
Seizures beginning in the first two years of life, followed by loss of developmental skills, dystonia in some children and slowing of head growth. Brain imaging shows calcifications and white matter changes. Many children die in early childhood.
Mit változtat a diagnózis
Care is supportive, with seizure treatment, feeding support, physiotherapy and palliative care input. Parents of an affected child are usually both carriers, so genetic counselling, carrier testing and options for prenatal testing can be discussed.
Vizsgált gének
Más néven
seizures, early-onset, with neurodegeneration and brain calcification; SENEBAC
