Isolated beta-methylcrotonyl-CoA carboxylase deficiency
Dec. 09, 2022
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Gross lateral view of cerebral hemisphere of a term neonate with generalized bilateral polymicrogyria. The normal pattern of gyration is not observed in any lobe. Gyri are small and excessive in number, and many of the sulci separating them are shallow because of gyral fusion. The lateral cerebral (Sylvian) fissure is formed, and the operculum is closed. Genetic testing was not performed in this case (parental decision) but might have shown a mutation causing tubulinopathy. (Reproduced from: Blumcke I, Sarnat HB, Coras R. Surgical Neuropathology of Focal Epilepsies: Textbook and Atlas. Montrouge, France: John Libbey Eurotext, 2015:44-6.)