Öz
L2 Hydroxiglutaric aciduria a rare, autosomal recessive inherited metabolic disorder. The disease is characterized by intellectual disability, ataxia , extrapyramidal signs and seizures. Diagnosis is made by cranial MRI and urine organic acid analysis. We present a boy who had inability to walk, poor school performance and seizures and received diagnosis of L2 hydroxyaglutaric aciduria
Anahtar Kelimeler
L2 hydroxyglutaric aciduria child brain tumor ataxia leukodystrophy metabolic disorder
Kaynakça
- Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK. L-2- Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis. 1980; 3(4):109 – 112.
- 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 of Neurol. 1992 ; 32: 66- 67.
- Fujitake J, Ishikawa Y, Fujii H, Nishimura K, Hayakawa K, Inoue F et al. L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. J of Neurol. 1999; 246(5): 378 – 382.
- Jequier Gygax M, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O et al. Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria. Eur J Pediatr 2009;168 (8):957-962.
- Zafeiriou DI, Ververi A, Salomons GS, Vargiami E, Haas D, Papadopoulou V et al. L-2 Hydroxyglutaric aciduria presenting with severe autistic features. Brain Dev 2008;30(4): 305–307.
- Seijo-Martínez M, Navarro C, Castro del Río M, Vila O, Puig M, Ribes A et al. L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Arch Neurol. 2005;62(4):666-70.
- Patay Z, Mills JC, Löbel U, Lambert A, Sablauer A, Ellison DW. Cerebral neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta- Analysis of Literature Data. AJNR Am J Neuroradiol 2012: 10.3174/ ajnr.A2869.
- Moroni I, Bugiani M, D’Incerti L, Maccagnano C, Rimoldi M, Bissola L et al. L-2-hydroxyglutaric aciduria and brain malignant tumors : A predisposing condition? Neurology 2004;62:1882-1884.
- Aghili M, Zahedi F, Rafiee E. Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol 2009;91(2):233-6.
Öz
L2 Hidroksiglutarik asidüri nadir rastlanan, otozomal resesif geçişli, metabolik bir hastalıktır. Hastalık zihinsel engellilik, ataksi, ekstrapiramidal bulgular ve nöbetler ile gider. Tanısı kranial MRG ve idrar organik asit incelemesi ile konur. On bir yaşında nöbet geçirme, yürüyememe, okul başarısında düşüklük ile başvuran ve bu tanıyı alan bir olguyu sunmaktayız
Anahtar Kelimeler
L2 hidroksiglutarik asidüri çocuk beyin tümörü ataksi lökodistrofi metabolik hastalık
Kaynakça
- Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK. L-2- Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis. 1980; 3(4):109 – 112.
- 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 of Neurol. 1992 ; 32: 66- 67.
- Fujitake J, Ishikawa Y, Fujii H, Nishimura K, Hayakawa K, Inoue F et al. L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. J of Neurol. 1999; 246(5): 378 – 382.
- Jequier Gygax M, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O et al. Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria. Eur J Pediatr 2009;168 (8):957-962.
- Zafeiriou DI, Ververi A, Salomons GS, Vargiami E, Haas D, Papadopoulou V et al. L-2 Hydroxyglutaric aciduria presenting with severe autistic features. Brain Dev 2008;30(4): 305–307.
- Seijo-Martínez M, Navarro C, Castro del Río M, Vila O, Puig M, Ribes A et al. L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Arch Neurol. 2005;62(4):666-70.
- Patay Z, Mills JC, Löbel U, Lambert A, Sablauer A, Ellison DW. Cerebral neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta- Analysis of Literature Data. AJNR Am J Neuroradiol 2012: 10.3174/ ajnr.A2869.
- Moroni I, Bugiani M, D’Incerti L, Maccagnano C, Rimoldi M, Bissola L et al. L-2-hydroxyglutaric aciduria and brain malignant tumors : A predisposing condition? Neurology 2004;62:1882-1884.
- Aghili M, Zahedi F, Rafiee E. Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol 2009;91(2):233-6.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Eylül 2012 |
| Yayımlandığı Sayı | Yıl 2012Sayı: 3 |