L-2-hydroxyglutaric aciduria: Pattern of MR imaging abnormalities in 56 patients

Marjan E. Steenweg, Gajja S. Salomons, Zuhal Yapici, Graziella Uziel, Emmanuel Scalais, Dimitrios I. Zafeiriou, Maria L. Ruiz-Falco, Vlatka Mejaški-Bošnjak, Persephone Augoustides-Savvopoulou, Moacir Wajner, John Walter, Nanda M. Verhoeven-Duif, Eduard A. Struys, Cornelis Jakobs, Marjo S. Van Der Knaap

Research output: Contribution to journalArticlepeer-review


Purpose: 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. Materials and 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 subcorticalWMoften had a mildly swollen appearance (37 patients). Initially, theWMabnormalities 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. Conclusion: 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.

Original languageEnglish
Pages (from-to)856-865
Number of pages10
Issue number3
Publication statusPublished - Jun 2009

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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