PMID: 9187477Jun 1, 1997Paper

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients

Brain & Development
C BarbotL Vilarinho

Abstract

We present clinical, biochemical and cranial magnetic resonance imaging data of six pediatric patients with L-2-hydroxyglutaric aciduria. All the children have the same ethic origin and lived in the northern area of Portugal. Our findings reinforce the described phenotype of this rare metabolic disease with mental deficiency, severe cerebellar dysfunction, mild extrapyramidal and pyramidal symptoms, progressive macrocephaly and seizures. Magnetic resonance imaging revealed subcortical leukoencephalopathy, cerebellar atrophy and signal changes in the putamina and dentate nuclei. These were similar to those of the previous reports in all patients. The urinary excretion of L-2-hydroxyglutaric acid was variably increased in all patients. The other persistent biochemical abnormality was hyperlysinemia. We have found a strong correlation between the severity of the clinical manifestations and the extension of the lesions in the neuroimaging studies. There was no correlation between the clinical findings and the amount of urinary excretion of L-2-hydroxyglutaric acid. We report the second case in the literature of a cerebral thalamic tumor in L-2-hydroxyglutaric aciduria; neuropathological examination of the surgical biopsy demonstrat...Continue Reading

References

Jul 1, 1992·Annals of Neurology·P G BarthF K Trefz
Jan 1, 1980·Journal of Inherited Metabolic Disease·M DuranS K Wadman
Jan 1, 1993·Journal of Inherited Metabolic Disease·B WilckenN Buchanan
Jan 1, 1993·Journal of Inherited Metabolic Disease·P DivryM O Livet

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Citations

Jan 23, 1999·Annals of Neurology·M S van der KnaapR A Chalmers
Dec 17, 2008·Pediatric Radiology·Chris J Hendriksz
Sep 18, 2009·Journal of Neurology·Shiv SaidhaMichael Hennessy
Sep 23, 2010·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Rosalucia MazzeiAldo Quattrone
Apr 17, 2008·Journal of Inherited Metabolic Disease·J O SassJ Fischer
Nov 17, 2010·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Dinesh RakhejaPayal Kapur
Jun 21, 2005·Molecular Genetics and Metabolism·Alexandra LatiniMoacir Wajner
Jun 5, 2003·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Cleide G da SilvaMoacir Wajner
Sep 26, 2009·Journal of Pediatric Hematology/oncology·Nalan YaziciIlknur Erol
Apr 28, 2010·Journal of Pediatric Hematology/oncology·Turgay Coşkun
May 26, 2006·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S M GoffetteC J Sindic
May 4, 2007·Journal of Medical Genetics·Jacques PenderisCathryn S Mellersh
Jul 28, 2012·BMC Veterinary Research·Fabiana H G FariasDennis P O'Brien
Jan 13, 2010·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Robert E RogersDinesh Rakheja
May 29, 2009·Radiology·Marjan E SteenwegMarjo S van der Knaap
Sep 17, 2013·Indian Journal of Pediatrics·Mahesh KamateVirupaxi Hattiholi
Mar 7, 2012·Journal of Inherited Metabolic Disease·Martijn KranendijkCornelis Jakobs
Nov 21, 2008·Journal of Inherited Metabolic Disease·E Van SchaftingenM Veiga-da-Cunha
May 30, 2001·Brain & Development·D I ZafeiriouG Katzos
Jan 14, 2012·AJNR. American Journal of Neuroradiology·Z PatayD W Ellison
Nov 14, 2008·European Journal of Pediatrics·Marine Jequier GygaxLuisa Bonafé
Jan 13, 2011·Pediatric Blood & Cancer·Dinesh RakhejaRalph J DeBerardinis
Mar 25, 2015·Chemical Research in Toxicology·Andrew J WorthIan A Blair
Mar 13, 2015·PloS One·Rim RzemEmile Van Schaftingen
Oct 7, 2016·European Journal of Radiology Open·Héla FouratiZeineb Mnif
Jun 6, 2003·Seminars in Pediatric Neurology·Ergun Y Uc, Robert L Rodnitzky
Jun 16, 2017·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·E V SaifullinaE N Zakirova
Sep 5, 2006·Journal of Child Neurology·Céline LeeJoachim Woelfle
Oct 22, 2008·Journal of Neuro-oncology·Mahdi AghiliElham Rafiee
Jun 28, 2019·JFMS Open Reports·George J NyeFrancois X Liebel
Aug 23, 2019·Physiological Reviews·David S Wishart
Aug 16, 2018·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Sandeep ShelarSunil Sudarshan
Aug 25, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Aysegul GunduzMeral E Kiziltan

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