Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndrome

Čačić, MelitaMelitaČačićWilichowski, EkkehardEkkehardWilichowskiMejaški-Bošnjak, VlatkaVlatkaMejaški-BošnjakFumić, KsenijaKsenijaFumićLujić, LucijaLucijaLujićMarusić, BrankaBrankaMarusićMarina, DellaDellaMarinaHanefeld, FolkerFolkerHanefeld2019-07-092019-07-092001https://resolver.sub.uni-goettingen.de/purl?gro-2/58622We report a case of a neonate with sectional narrowing of the spinal cord on the level of T12 to L2 and a deformed vertebral body on a different level, L4. In previously described cases of sectional spinal dysgenesis, the vertebral and spinal cord malformations are usually found on the same level. Our case may represent a new variant of spinal dysgenesis.Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndromejournal_article10.1177/088307380101600818https://resolver.sub.uni-goettingen.de/purl?gs-1/13077