Abstract | INTRODUCTION: 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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Authors | Bergitte Drivenes, Alfred Peter Born, Jakob Ek, Morten Dunoe, Peter Vilhelm Uldall |
Journal | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
(Eur J Paediatr Neurol)
Vol. 19
Issue 6
Pg. 719-21
(Nov 2015)
ISSN: 1532-2130 [Electronic] England |
PMID | 26278497
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. |
Chemical References |
- Anti-Inflammatory Agents
- SGCE protein, human
- Sarcoglycans
- Steroids
- Dexamethasone
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Topics |
- Anti-Inflammatory Agents
(therapeutic use)
- Dexamethasone
(therapeutic use)
- Diagnosis, Differential
- Diagnostic Errors
- Dystonic Disorders
(diagnosis, genetics, therapy)
- Exome
- Female
- Gene Deletion
- Humans
- Immunization, Passive
- Infant
- Opsoclonus-Myoclonus Syndrome
(diagnosis, genetics)
- Sarcoglycans
(genetics)
- Steroids
(therapeutic use)
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