title: [L-2 hydroxyglutaric aciduria in a patient with Klinefelter syndrome].
abstract: We present a of 22 years old patient who has a severe cerebellar disease that started during the first years of life, borderline mental level, epilepsy and Klinefelter syndrome. Brain magnetic resonance (MR) imaging revealed swollen white matter with a loss of signal on T1-weighted slices and an increase in signal intensity on T2-weighted images in both cerebral hemispheres and in both cerebellar dentate nuclei. MRI alterations did not change during the studies performed from 4 to 21 years. Blood and urine were analyzed and showed great elevation of L-2-hydroxyglutaric acid (L-2-HGA) and more discrete elevation of its metabolites and lysine. The parents of the patient are first cousins.
authors.affiliation: Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid. pascas@inves.es
authors.forename: I
authors.initials: I
authors.lastname: Pascual-Castroviejo
authors.forename: S I
authors.initials: SI
authors.lastname: Pascual-Pascual
authors.forename: R
authors.initials: R
authors.lastname: Velázquez Fragua
authors.forename: I
authors.initials: I
authors.lastname: Ferrer
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
authors.forename: J M
authors.initials: JM
authors.lastname: García-Segura
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism / Q000473:pathology; D002526:Cerebellar Diseases / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000737:chemistry / Q000378:metabolism*; D006801:Humans; D007713:Klinefelter Syndrome; D008239:Lysine / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male
chemical_list: D005977:Glutarates; D008239:Lysine