| Título: | L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case Report |
| Autores: |
ASHRAFI, Mahmoud Reza; MD,Professor of Pediatric Neurology, Tehran University of Medical Sciences, Tehran, Iran NIKKHAH, Ali; MD,Assistant Professor of Pediatric Neurology, Tehran University of Medical Sciences, Tehran, Iran HOUSHMAND, Massoud; PhD, Assistant professor of Human Molecular Genetics,Department of Medical Genetic,National Institute of Genetic Engineering and Biotechnology,Tehran,Iran ARYANI, Omid; MD,Genetic Counselor, Medical Genetic Dep. Special Medical Center, Tehran, Iran |
| Fecha: | 2011-12-03 |
| Publicador: | Iranian Journal of Child Neurology |
| Fuente: |
 |
| Tipo: |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Case reports |
| Tema: | Regression; leukodystrophy; L-2-Hydroxyglutaric aciduria |
| Descripción: | How to Cite this Article: Ashrafi MR, Nikkhah A, Houshmand M, Aryani O. L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A CaseReport Iranian Journal of Child Neurology 2011;5(4):37-38. L-2-Hydroxyglutaric aciduria is a rare autosomal recessive inherited neurometabolic disorder.It is characterized by slow progressive neurological dysfunction with cerebellar ataxia, pyramidal and extrapyramidal signs, intellectual decline, and seizures. Herein, we report a case of a 7-year-old boy from Tehran whose symptoms and signs indicated leukoencephalopathy with macrocephaly and motor delay. References 1. Barth PG, Hoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, et al. L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 1992;32(1):66-71. 2. Duran M, Kamerling JP, Bakker HD, Van Gennip AH, Wadman S. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 1980;3(4):109-12. 3. Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, et al. L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. Neuropediatrics 2008;39(2):119-22. 4. De Klerk JB, Huijmans JG, Stroink H, Robben SG, Jakobs C, Duran M. L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship. Neuropediatrics 1997;28(6):314-7. 5. Fenichel GM. Clinical pediatric neurology: a signs and symptoms approach. Saunders:Elsevier, 2009. 6. Diogo L, Fineza I, Canha J, Borges L, Cardoso ML, Vilarinho L. Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy. J Inherit Metab Dis 1996;19(3):369-70. 7. Rzem R, Van Schaftingen E, Veiga-da-Cunha M. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie 2006;88(1):113-6. 8. Shafeghati Y, Vakili G, Entezari A. L-2-hydroxyglutaric aciduria: A report of six cases and Review of the Literature. Arch Iran Med 2006;9(2):165-9. |
| Idioma: | Inglés |
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