Literature DB >> 8877604

Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease.

M Topçu1, G Erdem, I Saatçi, G Aktan, A Simşek, Y Renda, R B Schutgens, R J Wanders, C Jacobs.   

Abstract

We report three cases of L-2-hydroxyglutaric acidemia and three cases of Canavan disease. The L-2-hydroxyglutaric acidemia cases are the first biochemically proven Turkish cases. Magnetic resonance imaging findings in the cases and similarities between the two diseases are emphasized. Both diseases are characterized by predominant subcortical white-matter involvement and dentate nuclei lesions with variable basal ganglia involvement. Canavan disease differs from L-2-hydroxyglutaric acidemia by the presence of typical brainstem involvement.

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Year:  1996        PMID： 8877604     DOI： 10.1177/088307389601100505

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  12 in total

1.  [Metabolic disorders with typical alterations in MRI].

Authors:  M Warmuth-Metz
Journal:  Radiologe       Date:  2010-09       Impact factor: 0.635

Review 2.  Biochemistry and molecular biology of Canavan disease.

Authors:  R Matalon; K Michals-Matalon
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

3.  Magnetic resonance imaging findings of two sisters with Van der Knaap leukoencephalopathy.

Authors:  Koray Koç; Pınar Koç; Kamil Karaali; Nihal Olgaç Dündar; Utku Şenol; Arzu Canan
Journal:  Neuroradiol J       Date:  2015-10-01

4.  The dentate nucleus in children: normal development and patterns of disease.

Authors:  Aoife McErlean; Khaled Abdalla; Veronica Donoghue; Stephanie Ryan
Journal:  Pediatr Radiol       Date:  2010-01-28

5.  L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.

Authors:  Shiv Saidha; Sinead Murphy; Peter McCarthy; Philip D Mayne; Michael Hennessy
Journal:  J Neurol       Date:  2010-01       Impact factor: 4.849

6.  L-2-hydroxyglutaric aciduria and lactic acidosis.

Authors:  P G Barth; R J Wanders; H R Scholte; N Abeling; C Jakobs; R B Schutgens; P Vreken
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

Review 7.  Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data.

Authors:  Z Patay; J C Mills; U Löbel; A Lambert; A Sablauer; D W Ellison
Journal:  AJNR Am J Neuroradiol       Date:  2012-01-12       Impact factor: 3.825

8.  L-2 hydroxyglutaric aciduria presenting with status epilepticus.

Authors:  Sedat Işikay
Journal:  BMJ Case Rep       Date:  2013-06-07

9.  L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.

Authors:  Cem Gökçen; Sedat Isikay; Kutluhan Yilmaz
Journal:  BMJ Case Rep       Date:  2013-06-06

10.  MRI features in 17 patients with l2 hydroxyglutaric aciduria.

Authors:  Héla Fourati; Emna Ellouze; Mourad Ahmadi; Dhouha Chaari; Fatma Kamoun; Ines Hsairi; Chahnez Triki; Zeineb Mnif
Journal:  Eur J Radiol Open       Date:  2016-09-27
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