Brain Abnormalities, Neurodegeneration and Dysosteosclerosis
Autoszomális recesszív
Caused by changes in both copies of CSF1R, the receptor that supports microglia and other macrophage-type cells. In a single brain examined after death, microglia were absent.
Tünetek és jelek
Brain imaging shows abnormalities such as an absent corpus callosum, calcifications, enlarged ventricles and white matter changes. Children often develop seizures, developmental delay or regression, and stiffness. Bones are dense and sclerotic,. Severity and age at onset vary.
Mit változtat a diagnózis
Care is supportive, with seizure treatment, physiotherapy and bone management. Single CSF1R changes are associated with a different, adult-onset brain white matter disease (ALSP), so genetic counselling for parents and other relatives is particularly important, along with carrier testing.
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