A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

Bergitte Drivenes; Alfred Peter Born; Jakob Ek; Morten Dunoe; Peter Vilhelm Uldall

doi:10.1016/j.ejpn.2015.07.010

A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

Bergitte Drivenes, Alfred Peter Born, Jakob Ek, Morten Dunoe, Peter Vilhelm Uldall

6 Citations (Scopus)

Abstract

INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia.

CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrome was suspected and treatment with bolus steroids and immunoglobulin were initiated with some response over 28 months. A re-evaluation gave suspicion of a dyskinetic disorder and whole exome-sequencing was performed but no causal variant was identified.

OUTCOME: A specific analysis of the SGCE gene was subsequently initiated, which revealed a pathogenic aberration confirming the diagnosis of DYT11.

CONCLUSION: A clinical DYT11 diagnosis can be difficult to establish in early childhood without a known family history.

Original language	English
Journal	European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Volume	19
Issue number	6
Pages (from-to)	719-21
Number of pages	3
ISSN	1090-3798
DOIs	https://doi.org/10.1016/j.ejpn.2015.07.010
Publication status	Published - 29 Jul 2015

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A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome. / Drivenes, Bergitte; Born, Alfred Peter ; Ek, Jakob et al.
In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, Vol. 19, No. 6, 29.07.2015, p. 719-21.

Research output: Contribution to journal › Journal article › Research › peer-review

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title = "A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome",

abstract = "INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia.CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrome was suspected and treatment with bolus steroids and immunoglobulin were initiated with some response over 28 months. A re-evaluation gave suspicion of a dyskinetic disorder and whole exome-sequencing was performed but no causal variant was identified.OUTCOME: A specific analysis of the SGCE gene was subsequently initiated, which revealed a pathogenic aberration confirming the diagnosis of DYT11.CONCLUSION: A clinical DYT11 diagnosis can be difficult to establish in early childhood without a known family history.",

author = "Bergitte Drivenes and Born, \{Alfred Peter\} and Jakob Ek and Morten Dunoe and Uldall, \{Peter Vilhelm\}",

year = "2015",

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doi = "10.1016/j.ejpn.2015.07.010",

language = "English",

volume = "19",

pages = "719--21",

journal = "European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society",

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T1 - A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

AU - Drivenes, Bergitte

AU - Born, Alfred Peter

AU - Ek, Jakob

AU - Dunoe, Morten

AU - Uldall, Peter Vilhelm

PY - 2015/7/29

Y1 - 2015/7/29

N2 - INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia.CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrome was suspected and treatment with bolus steroids and immunoglobulin were initiated with some response over 28 months. A re-evaluation gave suspicion of a dyskinetic disorder and whole exome-sequencing was performed but no causal variant was identified.OUTCOME: A specific analysis of the SGCE gene was subsequently initiated, which revealed a pathogenic aberration confirming the diagnosis of DYT11.CONCLUSION: A clinical DYT11 diagnosis can be difficult to establish in early childhood without a known family history.

AB - INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia.CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrome was suspected and treatment with bolus steroids and immunoglobulin were initiated with some response over 28 months. A re-evaluation gave suspicion of a dyskinetic disorder and whole exome-sequencing was performed but no causal variant was identified.OUTCOME: A specific analysis of the SGCE gene was subsequently initiated, which revealed a pathogenic aberration confirming the diagnosis of DYT11.CONCLUSION: A clinical DYT11 diagnosis can be difficult to establish in early childhood without a known family history.

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DO - 10.1016/j.ejpn.2015.07.010

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JO - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

JF - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

IS - 6

ER -

A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

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