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Citation:
Sarangi P, Sharma R, Bell D, MEGDEL syndrome. Reference article, Radiopaedia.org (Accessed on 29 Mar 2025) https://doi.org/10.53347/rID-71636
MEGDEL syndrome (3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a mitochondrial disease with infantile onset. These patients typically initially receive a diagnosis of Leigh syndrome, based on clinical and biochemical features and an abnormal basal ganglia signal on brain MRI.
MEGDEL syndrome is an autosomal recessive disorder of oxidative phosphorylation with mutations in the SERAC1 gene which impairs mitochondrial function and intracellular cholesterol trafficking 1,2.
MRI
The basal ganglia, especially the putamina, are affected with swelling in early stages followed by atrophy. Sparing of the mid dorsal putamen (showing normal signal surrounded by T2 hyperintense signal) is referred to as the putaminal eye, a distinct imaging sign seen only in this disease 2,3. This sign is not readily recognised in end stage disease where there is marked volume loss of putamen. This disease has a distinctive imaging evolution on MRI with end stage atrophy of the basal ganglia, cerebrum and cerebellum.
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1. Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. (2006) Molecular genetics and metabolism. 88 (1): 47-52. doi:10.1016/j.ymgme.2006.01.013 - Pubmed
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2. Saskia B. Wortmann, Peter M. van Hasselt, Ivo Barić, Alberto Burlina, Niklas Darin, Friederike Hörster, Mahmut Coker, Sema Kalkan Ucar, Zita Krumina, Karin Naess, Lock H. Ngu, Ewa Pronicka, Gilian Riordan, Rene Santer, Evangeline Wassmer, Johannes Zschocke, Manuel Schiff, Linda de Meirleir, Mohammed A. Alowain, Jan A. M. Smeitink, Eva Morava, Tamas Kozicz, Ron A. Wevers, Nicole I. Wolf, Michel A. Willemsen. Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome. (2015) Neuropediatrics. 46 (02): 098. doi:10.1055/s-0034-1399755 - Pubmed
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3. Giron C, Roze E, Degos B, Méneret A, Jardel C, Lannuzel A, Mochel F. Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome. (2018) Tremor and Other Hyperkinetic Movements. 8: 568. doi:10.7916/D8VM5VBQ - Pubmed
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