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Case Reports
. 2018 Apr 18:8:554.
doi: 10.7916/D8VM5VBQ. eCollection 2018.

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Camille Giron  1 , Emmanuel Roze  1   2 , Bertrand Degos  1   3 , Aurélie Méneret  1   2 , Claude Jardel  4   5 , Annie Lannuzel  2   6 , Fanny Mochel  2   5   7
Affiliations
Case Reports

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Camille Giron et al. Tremor Other Hyperkinet Mov (N Y). .

Abstract

Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset.

Phenomenology shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome.

Educational value: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.

Keywords: Leigh syndrome; MEGDEL syndrome; SERAC1; adult; dystonia.

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Conflict of interest statement

Funding: None. Conflicts of Interest: The authors report no conflict of interest. Ethics Statements: All patients that appear on video have provided written informed consent; authorization for the videotaping and for publication of the videotape was provided.

Figures

Figure 1
Figure 1. Brain Magnetic Resonance Imaging. Basal ganglia with hyperintense signal (arrows) on axial T2-weighted image (A), corresponding to hypointense signal and atrophy (arrows) on axial T1-weighted image (B).
See this image and copyright information in PMC

Comment in

  • Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome.
    Finsterer J, Scorza FA, Fiorini AC, Scorza CA, Almeida AC. Finsterer J, et al. Tremor Other Hyperkinet Mov (N Y). 2018 May 29;8:568. doi: 10.7916/D8795MXR. eCollection 2018. Tremor Other Hyperkinet Mov (N Y). 2018. PMID: 29971201 Free PMC article.

References

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    1. Maas RR, Iwanicka-Pronicka K, Ucar SK, Alhaddad B, AlSayed M, Wortmann SB, et al. Progressive deafness-dystonia due to serac1 mutations: a study of 67 cases. Ann Neurol. 2017;82:1004–1015. doi: http://dx.doi.org/10.1002/ana.25110. - DOI - PMC - PubMed
    1. Wortmann SB, van Hasselt PM, Baric I. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. Neuropediatrics. 2015;46:98–103. doi: http://dx.doi.org/10.1055/s-0034-1399755. - DOI - PubMed

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