title: Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy.
abstract: In a 2-year-old boy with Leigh disease, spasticity, dysarthria, and optic atrophy gradually developed. Computed tomography and magnetic resonance imaging disclosed progressive, symmetric basal ganglia lesions. In muscle tissue, a defect of pyruvate dehydrogenase complex was found. Magnetic resonance volume selective proton spectroscopy (MRVS) of the basal ganglia demonstrated an abnormal lactate peak. A ketonemic diet coincided with clinical stabilization and arrest of progressive brain lesions. Lactate could no longer be demonstrated by MRVS. It reappeared with a new brain lesion coinciding with discontinuation of the diet. MRVS, therefore, appears to be a sensitive tool to evaluate pathologic lactate production in metabolic brain disease with disturbed energy metabolism and allows noninvasive therapy monitoring.
authors.affiliation: Department of Developmental Neurology, University of Tübingen, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Krägeloh-Mann
authors.forename: W
authors.initials: W
authors.lastname: Grodd
authors.forename: G
authors.initials: G
authors.lastname: Niemann
authors.forename: G
authors.initials: G
authors.lastname: Haas
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
mesh_terms: D001479:Basal Ganglia / Q000473:pathology*; D003937:Diagnosis, Differential; D005232:Fatty Acids, Volatile / Q000008:administration & dosage; D006801:Humans; D007773:Lactates / Q000378:metabolism*; D019344:Lactic Acid; D007888:Leigh Disease / Q000175:diagnosis* / Q000178:diet therapy / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000473:pathology; D009460:Neurologic Examination; D013052:Spectrometry, X-Ray Emission; D014057:Tomography, X-Ray Computed
chemical_list: D005232:Fatty Acids, Volatile; D007773:Lactates; D019344:Lactic Acid