L-2-hydroxyglutaric aciduria. A case report
DOI:
https://doi.org/10.53903/01212095.121Keywords:
Magnetic resonance imaging, Pediatrics, Neurology, Brain, Rare diseases, Brain diseases metabolicAbstract
L-2-hydroxyglutaric aciduria (AL2HG) is a rare autosomal recessive neurometabolic disorder. It is characterized by elevated of L-2-hydroxyglutarate and lysine in urine, cerebrospinal fluid and plasma. Patients usually have neurological manifestations including mild to moderate psychomotor developmental delay, cerebellar ataxia, macrocephaly and epilepsy. Magnetic resonance imaging
(MRI) has shown abnormalities in the signal intensity of the subcortical cerebral white matter, putamen and dentate nucleus. This article reports a case to demonstrate the classically described imaging findings.
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Topçu M, Erdem G, Saatçi I, Aktan G, Simsek A, Renda Y, 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(5):373-7.
Barkovich A, Raybaud C. Pediatric neuroimaging. 6th ed. Lippincott Williams & Wilkins; 2019. Chapter 3, p. 294-8.
Steenweg M, Salomons G, Yapici Z, Uziel G, Scalais E, Zafeiriou D, et al. l-2-hydroxyglutaric aciduria: Pattern of MR imaging abnormalities in 56 patients. Radiology. 2009;251(3):856-65.
Kular S. Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria. Radiology Case Reports. 2020;15(1):59-64.
Fourati H, Ellouze E, Ahmadi M, Chaari D, Kamoun F, Hsairi I, et al. MRI features in 17 patients with l2 hydroxyglutaric aciduria. Eur J Radiol Open. 2016;3:245-50.
Muthusamy K, Sudhakar S, Christudass C, Chandran M, Thomas M, Gibikote S. Clinicoradiological spectrum of l-2-hydroxy glutaric aciduria: Typical and atypical findings in an Indian cohort. J Clin Imag Sci. 2019;9:3.
Zoltan P, Orr B, Shulkin B, Hwang S, Ying Y, Broniscer A, Boop F, Ellison D. Successive distincthigh-grade gliomas in l-2-hydroxyglutaric aciduria. J Inherit Metab Dis. 2015;38(2):273-7.
London F. Gliomatosis cerebri in l-2-hydroxyglutaric aciduria. Acta Neurol Belg. 2015;115(4):749-51.
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