Case Report: L-2-Hydroxyglutaric Aciduria in Sibling Sisters

Rasim Bakhtiyar Bayramov¹, Mehriban Musa Sariyeva^2, and Narmin Eldar Maharramli²

¹Chief of Diagnostic Radiology Department, Educational – Surgical Clinic of Azerbaijan Medical University

²Diagnostic Radiology Department, Educational – Surgical Clinic of Azerbaijan Medical University

Cite this paper

Rasim Bakhtiyar Bayramov, Mehriban Musa Sariyeva and Narmin Eldar Maharramli. Case Report: L-2-Hydroxyglutaric Aciduria in Sibling Sisters. American Journal of Medical Case Reports. 2022; 10(4):93-97. doi: 10.12691/AJMCR-10-4-3

Abstract

Our case report presents one of the rarely seen disorders L-2-hydroxyglutaric aciduria. Very little information is given in the literature and it remained undiagnosed until the 1980s. According to our information, only 295 events have been described in the literature till date. Our case report describes the disease manifestations, clinical pictures, and a review of the relevant literature on L-2-hydroxyglutaric aciduria. Our patients were females aged 12 and 13 years, respectively, which were born in consanguineous and Caucasian descent family.

Keywords

L-2-hydroxyglutaric aciduria, mental retardation, speech difficulties, generalized seizure, febrile seizures, diffuse subcortical white matter lesions

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References

[1]	Barth P.G., Hoffmann G.F., Jaeken J., et al. L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 1992; 32: 66-71.
[2]	Duran M., Kamerling J.P, Bakker H.D, van Gennip A.H, Wadman S.K. L-2-hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab. Dis. 1980; 3: 109-112.
[3]	George J., Sandhya P., Sajitha K.V, et al. Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria. BMJ Case Reports CP 2021; 14: e244038.
[4]	Chaudhari D.M, Renjen P.N, Goyal N., et al. Central variant reversible encephalopathy syndrome BMJ Case Reports C.P 2022; 15: e245636.
[5]	Topçu M, Aydin O.F, Yalçinkaya C., et al. L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J. Pediatr 2005; 47: 1-7.
[6]	Moroni I., D’Incerti L., Farina L., et al. Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci 2000; 21: 103-8.
[7]	Haliloglu G., Jobard F., Oguz K.K, et al. L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. Neuropediatrics 2008; 39: 119-22.
[8]	Latini A., Scussiato K., Borba Rosa R., et al. Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain. J. Neurosci Res. 2003; 74: 103-110.
[9]	Ullah M.I., Nasir A., Ahmad A., et al. Identification of novel L2HGDH mutation in a large consanguineous Pakistani family—a case report. BMC Med. Genet. 2018; 19: 25.
[10]	Hanefeld F., Kruse B., Bruhn H. and Frahm J. (1994). In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia. Pediatr. Res., 35, 614-616.
[11]	Mete A., Isikay S., Sirikci A., et al. Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging. Pediatr Neurol 2012; 46: 195-7.
[12]	Topçu M., Erdem G., Saatçi I., et al. Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease. J.Child Neurol 1996; 11: 373-7.
[13]	Zafeiriou D.I, Sewellb A., Savvopoulou-Augoustidoua P., Gombakisa N., Katzoset G. L-2-Hydroxyglutaric aciduria presenting as status epilepticus. Brain Dev. 2001; 23(4):255-7.
[14]	Moroni I., D’Incerti L., Farina L., et al. Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci 2000; 21: 103-8.
[15]	Karatas H., Saygi S., Bastan B. L-2-hydroxyglutaric aciduria. Report of four Turkish adult patients. Neurologist. 2010; 16: 44-6.
[16]	Fujitake J., Ishikawa Y., Fujii H., et al. L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. J.Neurol 1999; 246: 378-382.
[17]	Meral Topçu., Florence Jobard., Sophie Halliez., Turgay Coskun, Cengiz Yalçinkayal, Filiz Ozbas Gerceker, Ronald J.A. Wanders, Jean-François Prud'homme, Mark Lathrop, Meral Özguc, Judith Fischer, L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1, Human Molecular Genetics, Volume 13, Issue 22, 15 November 2004, Pages 2803-2811.
[18]	Héla Fourati, Emna Ellouze, Mourad Ahmadi, Dhouha Chaari, Fatma Kamoun, Ines Hsairi, Chahnez Triki, Zeineb Mnif, MRI features in 17 patients with l2 hydroxyglutaric aciduria, European Journal of Radiology Open,Volume 3,2016,Pages 245-250, ISSN 2352-0477.
[19]	Canda, Ebru & Kose, Melis & Yazıcı, Havva & Er, Esra & Eraslan, Cenk & Ucar, Sema & Habif, Sara & Karaca, Emin & Onay, Hüseyin & Ozkinay, Ferda & Coker, Mahmut. (2018). Clinical, Neuroimaging, And Genetic Features of Patients With L-2-Hydroxyglutaric Aciduria. The Journal of Pediatric Research. 5. 10.4274/jpr.59454.
[20]	László Sztriha, Aithala Gururaj, Peter Vreken, Michael Nork, Gilles G Lestringant,l-2-hydroxyglutaric aciduria in two siblings,Pediatric Neurology,Volume 27, Issue 2, 2002, Pages 141-144.
[21]	Aghili 1, Zahedi F, Rafiee E. Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol 2009; 91: 233-6.
[22]	Haliloglu G, Jobard F, Oguz KK, et al. L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. Neuropediatrics 2008; 39: 119-22.
[23]	Moroni I, Bugiani M, D’Incerti L, et al. L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition? Neurology 2004; 62: 1882-4.