Adult-onset leukoencephalopathy with axonal spheroids and pigmental glia with diffuse cerebral microbleeds: case report

Excerpt

Adult-onset leukoencephalopathy with axonal spheroids and pigmental glia (ALSP) is an autosomal dominant white matter disease with a variety of initial symptoms, including cognitive, psychiatric, and/or motor dysfunction. The average age for onset of symptoms is 43 years, with the disease eventually leading to dementia and death at an average age of 53 years [1]. Patients with ALSP show significant variability in regard to phenotype, thus have often been misdiagnosed with other diseases. In 1984, the first report of ALSP in a Swedish family was presented, while mutations in the colony-stimulating factor 1 receptor (CSF1R) were later identified as the cause of this disease in 2012 [1]. Magnetic resonance imaging findings frequently show relatively symmetrical white matter lesions with pronounced occurrence in the frontal and parietal cortex, cerebral atrophy without a significant grey matter pathology, and thinning of the corpus callosum [2, 3]. However, the frequency of cerebral microbleeds (CMBs) in ALSP cases has been reported to be only 1% (2) or not observed [4, 5], thus it is thought to be very rare in affected patients. …