Abstract | AIM: MATERIAL AND METHODS: Twenty-five patients with L-2-hydroxyglutaric aciduria were enrolled in the study. Data regarding demographic, clinical, 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 symptoms 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 problems and seizures became more prominent in the disease course. At the time of diagnosis, mental retardation and at least one pathologic cerebellar 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:
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Authors | Tanyel Zübarioğlu, Cengiz Yalçınkaya, Çiğdem Oruç, Ertuğrul Kıykım, Mehmet Şerif Cansever, Alper Gezdirici, Gözde Yeşil, Ece Öge Enver, Çiğdem Aktuğlu Zeybek |
Journal | Turk pediatri arsivi
(Turk Pediatri Ars)
Vol. 55
Issue 3
Pg. 290-298
( 2020)
ISSN: 1306-0015 [Print] Turkey |
PMID | 33061758
(Publication Type: Journal Article)
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Copyright | Copyright: © 2020 Turkish Archives of Pediatrics. |