Professionals

Patients with BANDDOS (Brain Abnormalities, Neurodegeneration, and DysOsteoSclerosis) syndrome typically present with a characteristic clinical triad of progressive cognitive decline, deteriorating motor function, and spasticity accompanied by focal seizures. Imaging studies consistently reveal distinct neuropathological features including white matter lesions, periventricular calcifications, and corpus callosum hypoplasia, along with characteristic skeletal abnormalities such as diffuse osteosclerosis and metaphyseal widening of long bones.

This syndrome is primarily caused by bi-allelic mutations in the CSF1Rgene and follows an autosomal recessive inheritance pattern, with an estimated prevalence of less than 1 in 1,000,000 individuals.