title: L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
abstract: OBJECTIVE
  To describe the pattern of magnetic resonance (MR) imaging abnormalities in l-2-hydroxyglutaric aciduria (L2HGA) and to evaluate the correlation between imaging abnormalities and disease duration.
  
  
  METHODS
  MR images in 56 patients (30 male, 26 female; mean age +/- standard deviation, 11.9 years +/- 8.5) with genetically confirmed L2HGA were retrospectively reviewed, with institutional review board approval and waiver of informed consent. At least one complete series of transverse T2-weighted images was available for all patients. The images were evaluated by using a previously established scoring list. The correlation between MR imaging abnormalities and disease duration was assessed (Mann-Whitney or Kruskal-Wallis test).
  
  
  RESULTS
  The cerebral white matter (WM) abnormalities preferentially affected the frontal and subcortical regions. The abnormal subcortical WM often had a mildly swollen appearance (37 patients). Initially, the WM abnormalities were at least partially multifocal (32 patients). In patients with longer disease duration, the WM abnormalities became more confluent and spread centripetally, but the periventricular rim remained relatively spared (41 patients). The mean disease duration in patients with WM atrophy (14.8 years) was significantly longer (P = .001) than that in patients without atrophy (6.7 years). Bilateral involvement of the globus pallidus (55 patients), caudate nucleus (56 patients), and putamen (56 patients) was seen at all stages. The cerebellar WM was never affected. The dentate nucleus was involved bilaterally in 55 of 56 patients.
  
  
  CONCLUSIONS
  L2HGA has a distinct highly characteristic pattern of MR imaging abnormalities: a combination of predominantly subcortical cerebral WM abnormalities and abnormalities of the dentate nucleus, globus pallidus, putamen, and caudate nucleus. With increasing disease duration, WM abnormalities and basal ganglia signal intensity abnormalities become more diffuse and cerebral WM atrophy ensues.
authors.affiliation: Dept of Child Neurology, VU Univ Medical Ctr, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands.
authors.forename: Marjan E
authors.initials: ME
authors.lastname: Steenweg
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Yapici
authors.forename: Graziella
authors.initials: G
authors.lastname: Uziel
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Scalais
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
authors.forename: Maria L
authors.initials: ML
authors.lastname: Ruiz-Falco
authors.forename: Vlatka
authors.initials: V
authors.lastname: Mejaski-Bosnjak
authors.forename: Persephone
authors.initials: P
authors.lastname: Augoustides-Savvopoulou
authors.forename: Moacir
authors.initials: M
authors.lastname: Wajner
authors.forename: John
authors.initials: J
authors.lastname: Walter
authors.forename: Nanda M
authors.initials: NM
authors.lastname: Verhoeven-Duif
authors.forename: Eduard A
authors.initials: EA
authors.lastname: Struys
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D012189:Retrospective Studies; D018709:Statistics, Nonparametric
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate