Late-onset leukoencephalopathy with predominant damage to the brain stem, spinal cord and increased lactate (clinical observations)

Abstract

Leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate on magnetic resonance spectroscopy is a progressive hereditary disease of the nervous system clinically characterized by pyramidal and cerebellar dysfunction, dorsal column signs and sometimes axonal neuropathy with specific neuroimaging signs of damage to the nervous system, detected by magnetic resonance imaging. This disease is caused by mutations in the DARS2 gene. The article presents an analysis of three clinical cases with the manifestation of neurological symptoms in adolescence. Clinical features and magnetic resonance imaging findings are discussed, difficulties of differential diagnosis with multiple sclerosis are presented. Genetic screening algorithms are proposed.

Keywords

• leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate
• magnetic resonance features
• genetic screening algorithm