Autosomal dominant leukodystrophy presenting as Alzheimer's-type dementia

Autosomal dominant leukodystrophy is a neurodegenerative disorder caused by either point mutations or duplication of the lamin B1 gene on chromosome 5q23. The typical clinical picture consists of autonomic symptoms as well as cerebellar and pyramidal signs. Here we present the case of a 57-year-old female referred to our clinic due to cognitive decline. Neurological examination was significant for cognitive impairment as well as pyramidal and cerebellar signs. Brain MRI displayed diffuse hyperintense lesions in the subcortical white matter, pontine nuclei, brachium pontis and restiform body. The diagnosis was confirmed via genetic testing. Autosomal dominant leukodystrophy should be included in the differential diagnosis of patients presenting with cognitive impairment, motor signs, and leukodystrophy-like images.