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Journal of Neurology

, Volume 263, Issue 7, pp 1456–1458 | Cite as

EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

  • Elena Gargaun
  • Andreea Mihaela Seferian
  • Ruxandra Cardas
  • Anne-Gaelle Le Moing
  • Catherine Delanoe
  • Juliette Nectoux
  • Isabelle Nelson
  • Gisèle Bonne
  • Marie-Thérèse Bihoreau
  • Jean-François Deleuze
  • Anne Boland
  • Cécile Masson
  • Laurent Servais
  • Teresa GidaroEmail author
Letter to the Editors

Dear Sirs,

A 5-year-old patient attended our clinic for progressive proximal, axial, and facial weakness associated to complete bulbar palsy and tongue fasciculations. She was the first child of non-consanguineous healthy parents with a normal motor development. At 3 years, the patient showed complete impossibility to raise from the floor or to sit independently, and needed support to walk. Ambulation was lost at three and a half years. Severe facial weakness and marked tongue fasciculations, absence of deep tendon reflexes, were found as well as mild distal retractions. Oral feeding was compromised. Intelligence was fully conserved, and formal testing of hearing was normal. According to the initial hypothesis of Fazio–Londe syndrome (FLS), despite normal hearing, the child was put on riboflavin for 3 months with no improvement. Facial weakness progressed, causing aspiration pneumonia, and language became hardly understandable. Also, the child presented with obstructive apnea. Given...

Keywords

Riboflavin Compound Muscle Action Potential Facial Weakness Musculocutaneous Nerve SMN1 Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

This work was supported by the France Génomique National infrastructure, funded as part of the “Investissements d’Avenir” program managed by the Agence Nationale pour la Recherche (contract ANR-10-INBS-09).

Compliance with ethical standards

Conflicts of interest

The authors declare that they have no conflict of interest.

Ethical standards

The study was performed in accordance with the ethical standards statement.

Informed consent

The parents of the child signed an informed consent for the publication of the child’s photographs. All genetic tests were performed with the patients’ informed consent.

Supplementary material

Supplementary material 1 (MP4 21987 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Elena Gargaun
    • 1
  • Andreea Mihaela Seferian
    • 1
  • Ruxandra Cardas
    • 1
  • Anne-Gaelle Le Moing
    • 1
  • Catherine Delanoe
    • 2
  • Juliette Nectoux
    • 3
  • Isabelle Nelson
    • 4
  • Gisèle Bonne
    • 4
  • Marie-Thérèse Bihoreau
    • 5
  • Jean-François Deleuze
    • 5
  • Anne Boland
    • 5
  • Cécile Masson
    • 6
  • Laurent Servais
    • 1
  • Teresa Gidaro
    • 1
    Email author
  1. 1.I-Motion, Pediatric Platform of Clinical TrialsTrousseau HospitalParisFrance
  2. 2.Neurological Function Test EMG/EEG Robert Debré HospitalParisFrance
  3. 3.Molecular Genetics and Biochemistry UnitHUPC Cochin HospitalParisFrance
  4. 4.Sorbonne University, UPMC Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in MyologyParisFrance
  5. 5.National Center of GenotypingInstitute of Genomics, CEAEvryFrance
  6. 6.Bioinformatic Platform, Imagine InstituteSorbonne University, Paris-DescartesParisFrance

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