Evaluation of clinical, neuroradiologic, and genotypic features of patients with l-2-hydroxyglutaric aciduria L-2-hidroksiglutarik asidüri hastalarında klinik, nöroradyolojik ve genetik bulguların değerlendirilmesi
Turkish Archives of Pediatrics, cilt.55, sa.3, ss.290-298, 2020 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 55 Sayı: 3
- Basım Tarihi: 2020
- Doi Numarası: 10.14744/turkpediatriars.2019.06926
- Dergi Adı: Turkish Archives of Pediatrics
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.290-298
- Anahtar Kelimeler: Brain magnetic resonance imaging, L2HGDH, L-2-hydroxyglutaric aciduria, subcortical white matter
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Aim: L-2-hydroxyglutaric aciduria is a slowly progressive neurometabol-ic disorder caused by an enzymatic deficiency of L-2-hydroxyglutarate dehydrogenase. Here, we aimed to evaluate the clinical, neuroradiolog-ic, and genotypic characteristics of patients with L-2-hydroxyglutaric aciduria who were followed in our outpatient clinic. Material and Methods: Twenty-five patients with L-2-hydroxyglutaric aciduria were enrolled in the study. Data regarding demographic, clini-cal, and neuroradiologic findings and molecular analysis were evaluated retrospectively. Results: The mean age of patients at the time of diagnosis was 12.09±8.02 years, whereas the mean age at the time of the first symp-toms was 39.47±29.96 months. Diagnostic delay was found as 9.95±7.78 years. Developmental delay, decrease in school success, and seizures were the most common initial symptoms; however, behavioral prob-lems and seizures became more prominent in the disease course. At the time of diagnosis, mental retardation and at least one pathologic cere-bellar finding were detected in all symptomatic patients. Three patients developed brain tumors. The most common neuroimaging findings were subcortical white matter changes and cerebellar dentate nucleus involvement. In one patient, there was only isolated basal ganglia involvement without white matter lesions. Patients with similar genotypic features exhibited different clinical and radiologic findings. Conclusion: Although clinical symptoms appear early in L-2-hydroxy-glutaric aciduria, there is approximately a ten-year delay in diagnosis. In subjects in whom brain tumor is detected in early childhood, L-2-hy-droxyglutaric aciduria should be considered in the differential diagnosis in the presence of mental retardation accompanied by developmental delay, cerebellar and pyramidal findings, and behavior disorders in a wide spectrum ranging from autism spectrum disorder to psychosis. In patients with L-2-hydroxyglutaric aciduria, incipient headache, tinnitus, altered consciousness, and seizures can be indicative of brain tumors.