L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
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.
Steenweg
Marjan E
ME
Dept of Child Neurology, VU Univ Medical Ctr, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands.
Salomons
Gajja S
GS
Yapici
Zuhal
Z
Uziel
Graziella
G
Scalais
Emmanuel
E
Zafeiriou
Dimitrios I
DI
Ruiz-Falco
Maria L
ML
Mejaski-Bosnjak
Vlatka
V
Augoustides-Savvopoulou
Persephone
P
Wajner
Moacir
M
Walter
John
J
Verhoeven-Duif
Nanda M
NM
Struys
Eduard A
EA
Jakobs
Cornelis
C
van der Knaap
Marjo S
MS
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
D005977:Glutarates; C019417:alpha-hydroxyglutarate