title: Osmotic demyelination syndrome as a consequence of treating hyperammonemia in a patient with ornithine transcarbamylase deficiency.
abstract: A 7-year-old female patient with a new diagnosis of ornithine transcarbamylase deficiency was treated for hyperammonemia with a standard protocol. Several days later, she developed ataxia, dysmetria, and dysarthria. Magnetic resonance imaging of the brain demonstrated pontine and extrapontine white matter changes consistent with osmotic demyelination. Classically described as a consequence of hyponatremia treatment, osmotic demyelination syndrome has rarely been associated with other entities. This case suggests a potentially serious complication of the standard therapy for hyperammonemia in patients with ornithine transcarbamylase deficiency.
authors.affiliation: Division of Child Neurology, Barrow Neurological Institute, and St. Joseph's Hospital and Medical Center, Phoenix, Arizona, USA. javier.cardenas@chw.edu
authors.forename: Javier F
authors.initials: JF
authors.lastname: Cardenas
authors.forename: John B
authors.initials: JB
authors.lastname: Bodensteiner
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D003711:Demyelinating Diseases / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000188:drug therapy* / Q000209:etiology; D008279:Magnetic Resonance Imaging; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000188:drug therapy*; D013256:Steroids / Q000627:therapeutic use; D013577:Syndrome; D016896:Treatment Outcome
chemical_list: D013256:Steroids