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

Camille Giron; Emmanuel Roze; Bertrand Degos; Aurélie Méneret; Claude Jardel; Annie Lannuzel; Fanny Mochel

doi:10.7916/D8VM5VBQ

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

Tremor Other Hyperkinet Mov (N Y). 2018 Apr 18:8:554. doi: 10.7916/D8VM5VBQ. eCollection 2018.

Authors

Camille Giron¹, 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

¹ AP-HP, Department of Neurology, La Pitié-Salpêtrière Hospital, Paris, France.
² Sorbonne Universités, UPMC-Paris 6, UMR S 1127, ICM, Paris, France.
³ AP-HP, Department of Neurology, Avicennes Hospital, Bobigny, France.
⁴ AP-HP, Department of Metabolic Biochemistry, La Pitié-Salpêtrière Hospital, Paris, France.
⁵ Sorbonne Universités, Neurometabolic Clinical Research Group, Paris, France.
⁶ AP-HP, Department of Neurology, Pointe-à-Pitre/Abymes Hospital, France.
⁷ AP-HP, Department of Genetics, La Pitié-Salpêtrière Hospital, Paris, France.

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.

Publication types

Case Reports

MeSH terms

Brain / diagnostic imaging
Brain Diseases / diagnostic imaging
Brain Diseases / physiopathology*
Deafness / diagnostic imaging
Deafness / physiopathology*
Disease Progression
Dystonic Disorders / complications*
Dystonic Disorders / diagnostic imaging
Humans
Leigh Disease / diagnostic imaging
Leigh Disease / physiopathology*
Longitudinal Studies
Male
Metabolism, Inborn Errors / diagnostic imaging
Metabolism, Inborn Errors / physiopathology*

Supplementary concepts

3-Methylglutaconic Aciduria