Abstract
L-2-hydroxyglutaric aciduria (L2HGA) is a slowly progressive, autosomal recessive neurodegenerative disorder. Characteristic clinical features of the disease include developmental delay, behavioral disorders, febrile and afebrile seizures. Frequent abnormal examination findings can be listed as macrocephaly, mental retardation, cerebellar ataxia, pyramidal and extrapyramidal signs. Brain magnetic resonance imaging (MRI) features are characterized by subcortical white matter, basal ganglia and cerebellar dentate nuclei alterations. Definite diagnosis can be made by determination of elevated 2-hydroxyglutaric acid accumulation in plasma, urine and cerebrospinal fluid and by molecular diagnosis of L2HGDH gene accompanied by clinical and radiological findings. Malignant brain tumors have been reported in the course of L2HGA. Here, a patient that was operated because of brain tumor in adolescence and in whom the L2HGA diagnosis was made by abnormal brain MRI features is reported.
Following the diagnosis, her sister was also diagnosed as L2HGA due to family screening. In the light of
these cases, it is emphasized that metabolic diseases should be included in differential diagnosis of brain
tumors in early life especially in existence of neurodevelopmental delay, mental retardation and
pathological examination findings. Specific radiological features of neurometabolic disorders and
importance of family screening in metabolic diseases are also highlighted.
References
- Van Schaftingen E, Rzem R, Veiga-da-Cunha M. L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. J Inherit Metab Dis 2009; 32 (2): 135-42.
- Hoffmann GF, Kölker S. Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism. In: Saudubray JM, Baumgartner MR, Walter. J (eds). Inborn Metabolic Diseases Diagnosis and Treatment. 6th Edn. Berlin,Heidelberg: Springer; 2016: 333-48.
- Steenweg ME, Salomons GS, Yapici Z, et al. L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology 2009;251(3):856-65.
- Yilmaz K. Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria. Eur J Paediatr Neurol 2009;13(1):57-60.
- Samuraki M, Komai K, Hasegawa Y, et al. A successfully treated adult patient with L-2-hydroxyglutaric aciduria. Neurology 2008; 70 (13): 1051-2.
- Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E, et al. Clinical, neuroimaging, and genetic features of L-2- hydroxyglutaric aciduria in Arab kindreds. Ann Saudi Med. 2014;34(2):107-14.
- Steenweg ME, Jakobs C, Errami A, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat. 2010;31(4):380-90.
- Fourati H, Ellouze E, Ahmadi M, et al. MRI features in 17 patients with l2 hydroxyglutaric aciduria. Eur J Radiol Open 2016; 3: 245-50.
- 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; 33 (5): 940-3.
- Türkiye İstatistik Kurumu. Resmi internet sitesi: http://www.tuik.gov.tr
Abstract
L-2-hidroksiglutarik asidüri (L2HGA), yavaş seyirli, otozomal çekinik geçişli, nörodejeneratif bir metabolik hastalıktır. Hastalığın temel klinik bulgularını motor gelişim basamaklarında gecikme, davranış bozuklukları, febril ve afebril nöbetler oluşturup, sık görülen muayene bulguları arasında makrosefali, mental retardasyon, serebellar ataksi, piramidal ve ekstrapiramidal bulgular yer alır. Beyin manyetik rezonans görüntülemesinde (MRG) subkortikal alandan başlayan beyaz cevher etkilenmesi ile bazal gangliyon ve serebellar dentat nükleus tutulumu tipiktir. Kesin tanı klinik ve radyolojik görüntülemelerin eşliğinde serumda, idrarda ve beyin omurilik sıvısında (BOS) artmış 2-hidroksiglutarik asit düzeyinin gösterilmesi ve L2HGDH geninin moleküler analizi ile konulur. L2HGA tanısıyla takip edilen hastalarda beyin neoplazmı gelişimi bildirilmiştir. Bu yazıda, adolesan dönemde beyin tümörü nedeniyle opere edilen bir hastada patolojik beyin MRG bulgularının varlığının L2HGA tanısı koydurduğu bir hasta sunulmuştur. Tanı sonrası yapılan aile taramasında hastanın kardeşi de L2HGA tanısı almıştır. Sunulan olguların ışığında, erken yaşta beyin tümörü saptanan hastalarda, eşlik eden gelişim basamaklarında gecikme, mental retardasyon ve patolojik muayene bulgularının varlığında metabolik hastalıkların da ayırıcı tanıda akılda tutulması, nöro-metabolik hastalıkların spesifik radyolojik bulgularının üzerinde durulması ve metabolik hastalıklarda aile taramasının önemi vurgulanmıştır.
References
- Van Schaftingen E, Rzem R, Veiga-da-Cunha M. L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. J Inherit Metab Dis 2009; 32 (2): 135-42.
- Hoffmann GF, Kölker S. Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism. In: Saudubray JM, Baumgartner MR, Walter. J (eds). Inborn Metabolic Diseases Diagnosis and Treatment. 6th Edn. Berlin,Heidelberg: Springer; 2016: 333-48.
- Steenweg ME, Salomons GS, Yapici Z, et al. L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology 2009;251(3):856-65.
- Yilmaz K. Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria. Eur J Paediatr Neurol 2009;13(1):57-60.
- Samuraki M, Komai K, Hasegawa Y, et al. A successfully treated adult patient with L-2-hydroxyglutaric aciduria. Neurology 2008; 70 (13): 1051-2.
- Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E, et al. Clinical, neuroimaging, and genetic features of L-2- hydroxyglutaric aciduria in Arab kindreds. Ann Saudi Med. 2014;34(2):107-14.
- Steenweg ME, Jakobs C, Errami A, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat. 2010;31(4):380-90.
- Fourati H, Ellouze E, Ahmadi M, et al. MRI features in 17 patients with l2 hydroxyglutaric aciduria. Eur J Radiol Open 2016; 3: 245-50.
- 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; 33 (5): 940-3.
- Türkiye İstatistik Kurumu. Resmi internet sitesi: http://www.tuik.gov.tr
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | December 30, 2019 |
| Submission Date | October 9, 2018 |
| Published in Issue | Year 2019 |