Özpınar, EsraKaytan, İsmailTopçu, YaseminKılıç, BetülAydın, Kürşad2022-01-142022-01-142021Özpınar, E., Kaytan, İ., Topçu, Y., Kılıç, B. ve Aydın, K. (2021). A rare cause of globus pallidus and dentate nucleus hyperintensity in childhood: MBOAT mutation. Neurology India, 69(6), 1838-1840. https://doi.org/10.4103/0028-3886.3334780028-3886https://doi.org/10.4103/0028-3886.333478https://hdl.handle.net/20.500.12511/8811Mutations in mammalian membrane-bound O-acyltransferase domain-containing (MBOAT) 7 gene are a rare cause for intellectual disability, developmental delay, autistic findings, epilepsy, truncal hypotonia with appendicular hypertonia, and below-average head sizes. Pathogenic variants in MBOAT7 gene show these nonspecific clinical features that are seen in many other neurometabolic diseases. Therefore, specific neuroimaging findings can be valuable key factors for differential diagnosis. Magnetic resonance imaging (MRI) findings of T2 hyperintensity in bilateral globus pallidi and dentate nuclei are seen in a few neurometabolic diseases with similar clinical features of developmental delay and hypotonia, as in our cases. While evaluating the patients with similar phenotypes and specific MRI findings, MBOAT7 deficiency should be kept in mind. Here, we identified two brothers who had a novel homozygous variant in MBOAT7 gene and aimed to raise awareness about this newly described disease.enAttribution-NonCommercial-ShareAlike 4.0 Internationalinfo:eu-repo/semantics/openAccessDentate NucleusGlobus PallidusMBOAT7 Key MessageT2 Hyperintensity in Both Bilateral Globus Pallidi and Dentate Nuclei are Specific MRI Findings That Point to The Diagnosis of Rare Neurometabolic Diseases Such as MBOAT7 DeficiencyArticle6961838184010.4103/0028-3886.333478N/AQ3