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

4 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Vol/bind	19
Udgave nummer	6
Sider (fra-til)	719-21
Antal sider	3
ISSN	1090-3798
DOI	https://doi.org/10.1016/j.ejpn.2015.07.010
Status	Udgivet - 29 jul. 2015

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10.1016/j.ejpn.2015.07.010

Citationsformater

A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome. / Drivenes, Bergitte; Born, Alfred Peter ; Ek, Jakob et al.
I: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, Bind 19, Nr. 6, 29.07.2015, s. 719-21.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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",

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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.

U2 - 10.1016/j.ejpn.2015.07.010

DO - 10.1016/j.ejpn.2015.07.010

M3 - Journal article

C2 - 26278497

SN - 1090-3798

VL - 19

SP - 719

EP - 721

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

Abstract

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