A rare cause of globus pallidus and dentate nucleus hyperintensity in childhood: MBOAT mutation

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dc.authorid0000-0003-1513-6149
dc.contributor.authorÖzpınar, Esra
dc.contributor.authorKaytan, İsmail
dc.contributor.authorTopçu, Yasemin
dc.contributor.authorKılıç, Betül
dc.contributor.authorAydın, Kürşad
dc.date.accessioned2022-01-14T12:39:03Z
dc.date.available2022-01-14T12:39:03Z
dc.date.issued2021
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractMutations 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.
dc.identifier.citationÖzpınar, 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/10.4103/0028-3886.333478
dc.identifier.doi10.4103/0028-3886.333478
dc.identifier.endpage1840
dc.identifier.issn0028-3886
dc.identifier.issue6
dc.identifier.scopusqualityQ3
dc.identifier.startpage1838
dc.identifier.urihttps://doi.org/10.4103/0028-3886.333478
dc.identifier.urihttps://hdl.handle.net/20.500.12511/8811
dc.identifier.volume69
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWolters Kluwer Medknow Publications
dc.relation.ispartofNeurology Indiaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsAttribution-NonCommercial-ShareAlike 4.0 International*
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectDentate Nucleus
dc.subjectGlobus Pallidus
dc.subjectMBOAT7 Key Message
dc.subjectT2 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 Deficiency
dc.titleA rare cause of globus pallidus and dentate nucleus hyperintensity in childhood: MBOAT mutation
dc.typeArticle

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