title: [L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly].
abstract: We report on a 9-year-old girl who was referred to our department because of increasing macrocephaly and school problems. The neurological examination disclosed mild cerebellar dysfunction and positive pyramidal tract signs. An MRI of the brain revealed extensive signal alterations of the white matter. Biochemical investigations established the diagnosis of L-2-hydroxyglutaric aciduria which has to be kept in mind as a rare cause of macrocephaly.
authors.affiliation: Abteilung für Neuropädiatrie und Sozialpädiatrie, Universitätsklinikum Giessen. Olaf.Hussmann@paediat.med.uni-giessen.de
authors.forename: O
authors.initials: O
authors.lastname: Hussmann
authors.forename: D
authors.initials: D
authors.lastname: Haas
authors.forename: B A
authors.initials: BA
authors.lastname: Neubauer
authors.forename: B
authors.initials: B
authors.lastname: Kruse
authors.forename: M
authors.initials: M
authors.lastname: Huegens-Penzel
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: A
authors.initials: A
authors.lastname: Hahn
mesh_terms: D000293:Adolescent; D000367:Age Factors; D001921:Brain / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000473:pathology / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination
chemical_list: D005977:Glutarates; D006880:Hydroxy Acids; C019417:alpha-hydroxyglutarate; C035736:glutaric acid