title: Brainstem lesion revealed by MRI in a case of Leigh's disease with respiratory failure.
abstract: This 6-year-old girl was admitted with insufficient involuntary breathing and generalized hypotonia. T2-weighted MR images showed bilateral symmetrical tubular hyperintense lesions in the medio-caudal part of the medulla oblongata that correlated well with demyelination and gliosis in the regions of the reticular formation and the nucleus solitarius found at autopsy. The typical lesions of Leigh's disease in the basal ganglia were not present, which made the diagnosis uncertain prior to the histopathological findings. MRI was very helpful in deciding on further management of the patient.
authors.affiliation: Department of Pediatrics, University of Zürich, Switzerland.
authors.forename: E
authors.initials: E
authors.lastname: Martin
authors.forename: R
authors.initials: R
authors.lastname: Burger
authors.forename: O D
authors.initials: OD
authors.lastname: Wiestler
authors.forename: R
authors.initials: R
authors.lastname: Caduff
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
authors.forename: C
authors.initials: C
authors.lastname: Boesch
mesh_terms: D001928:Brain Diseases, Metabolic / Q000473:pathology*; D001933:Brain Stem / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000150:complications / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D012131:Respiratory Insufficiency / Q000209:etiology