eng Science and Education Publishing American Journal of Medical Case Reports 2374-216X 2022-04-12 10 4 93 97 10.12691/ajmcr-10-4-3 AJMCR20221043 article Rasim Bakhtiyar Bayramov 1 Mehriban Musa Sariyeva dr.sariyeva@gmail.com 2 Narmin Eldar Maharramli 2 Chief of Diagnostic Radiology Department, Educational ¨C Surgical Clinic of Azerbaijan Medical University Diagnostic Radiology Department, Educational ¨C Surgical Clinic of Azerbaijan Medical University 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. http://pubs.sciepub.com/ajmcr/10/4/3/ajmcr-10-4-3.pdf L-2-hydroxyglutaric aciduria mental retardation speech difficulties generalized seizure febrile seizures diffuse subcortical white matter lesions