Hereditäre diffuse Leukenzephalopathie mit Sphäroiden

摘要: Hereditary diffuse leukencephalopathy with spheroids (HDLS) is a rare progressive form of leukodystrophy variable clinical presentation and little known pathophysiology. Characteristic pathological features at brain biopsy or postmortem can support the diagnosis. The genetic basis HDLS was elusive until 2011 when mutations in colony-stimulating factor 1 receptor (CSF1R) gene were identified as cause. Mutations CSF1R had previously been associated tumor development, including hematological malignancies. We report three patients who carried missense gene, two them novel (p.L582P p.V383L). Particularly younger rapid cognitive decline and/or unknown origin, appears to be more common than thought. Various compounds acting on CSF1 are available from treatment hemato-oncological malignancies, so therapeutic approaches could developed for this devastating condition.