Ontology highlight
ABSTRACT:
SUBMITTER: Borna NN
PROVIDER: S-EPMC7697158 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Borna Nurun Nahar NN Kishita Yoshihito Y Sakai Norio N Hamada Yusuke Y Kamagata Koji K Kohda Masakazu M Ohtake Akira A Murayama Kei K Okazaki Yasushi Y
Genes 20201109 11
Leigh syndrome (LS) is most frequently characterized by the presence of focal, bilateral, and symmetric brain lesions Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare condition, characterized by progressive pyramidal, cerebellar, and dorsal column dysfunction. We describe a case with infantile-onset neurodegeneration, psychomotor retardation, irritability, hypotonia, and nystagmus. Brain MRI demonstrated signal abnormalities in the deep cerebr ...[more]