PMID- 27709120
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220409
IS  - 2352-0477 (Print)
IS  - 2352-0477 (Electronic)
IS  - 2352-0477 (Linking)
VI  - 3
DP  - 2016
TI  - MRI features in 17 patients with l2 hydroxyglutaric aciduria.
PG  - 245-250
AB  - l-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease 
      usually observed in children. Patients present a very slowly progressive 
      deterioration with cerebellar ataxia, mild or severe mental retardation, and 
      various other clinical signs including extrapyramidal and pyramidal symptoms, and 
      seizures Goffette et al. [1]. This leukencephalopathy was first described in 1980 
      Duran et al. [2]. Brain magnetic resonance imaging (MRI) demonstrates nonspecific 
      subcortical white matter (WM) loss, cerebellar atrophy and changes in dentate 
      nuclei and putamen Steenweg et al. [3]. The diagnosis is highlighted by increased 
      levels of l-2-HG in body fluids such as urine and cerebrospinal fluid. The 
      purpose of this study is to retrospectively describe the brain MRI features in 
      l-2-HG aciduria.
FAU - Fourati, Hela
AU  - Fourati H
AD  - Radiology Departement Hedi Chaker Hospital, EL Ain Road, 3002 3089 Sfax, Tunisia; 
      Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university 
      Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia.
FAU - Ellouze, Emna
AU  - Ellouze E
AD  - Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university 
      Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia; Pediatric Neurology 
      department Hedi Chaker Hospital, EL Ain Road, 3089 Sfax, Tunisia.
FAU - Ahmadi, Mourad
AU  - Ahmadi M
AD  - Radiology Departement Hedi Chaker Hospital, EL Ain Road, 3002 3089 Sfax, Tunisia.
FAU - Chaari, Dhouha
AU  - Chaari D
AD  - Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university 
      Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia.
FAU - Kamoun, Fatma
AU  - Kamoun F
AD  - Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university 
      Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia; Pediatric Neurology 
      department Hedi Chaker Hospital, EL Ain Road, 3089 Sfax, Tunisia.
FAU - Hsairi, Ines
AU  - Hsairi I
AD  - Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university 
      Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia; Pediatric Neurology 
      department Hedi Chaker Hospital, EL Ain Road, 3089 Sfax, Tunisia.
FAU - Triki, Chahnez
AU  - Triki C
AD  - Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university 
      Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia; Pediatric Neurology 
      department Hedi Chaker Hospital, EL Ain Road, 3089 Sfax, Tunisia.
FAU - Mnif, Zeineb
AU  - Mnif Z
AD  - Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university 
      Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia; Pediatric Neurology 
      department Hedi Chaker Hospital, EL Ain Road, 3089 Sfax, Tunisia.
LA  - eng
PT  - Journal Article
DEP - 20160927
PL  - England
TA  - Eur J Radiol Open
JT  - European journal of radiology open
JID - 101650225
PMC - PMC5043405
OTO - NOTNLM
OT  - GM, Gray matter
OT  - Leukoencephalopathy
OT  - MRI
OT  - MRI, Magnetic resonance imaging
OT  - Spectroscopy
OT  - WM, white matter
OT  - WMA, white matter abnormalities
OT  - l-2-HG, l-2-Hydroxyglutaric
OT  - l-2-Hydroxyglutaric aciduria
EDAT- 2016/10/07 06:00
MHDA- 2016/10/07 06:01
PMCR- 2016/09/27
CRDT- 2016/10/07 06:00
PHST- 2016/07/21 00:00 [received]
PHST- 2016/08/30 00:00 [revised]
PHST- 2016/09/24 00:00 [accepted]
PHST- 2016/10/07 06:00 [entrez]
PHST- 2016/10/07 06:00 [pubmed]
PHST- 2016/10/07 06:01 [medline]
PHST- 2016/09/27 00:00 [pmc-release]
AID - S2352-0477(16)30033-8 [pii]
AID - 10.1016/j.ejro.2016.09.001 [doi]
PST - epublish
SO  - Eur J Radiol Open. 2016 Sep 27;3:245-250. doi: 10.1016/j.ejro.2016.09.001. 
      eCollection 2016.