Bergitte Drivenes1, Alfred Peter Born2, Jakob Ek3, Morten Dunoe4, Peter Vilhelm Uldall5. 1. Department of Children and Youth, Hvidovre Hospital, Kettegaard alle 30, 2650 Hvidovre, Denmark. Electronic address: bergittedrivenes@gmail.com. 2. Department of Children and Youth, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen E, Denmark. Electronic address: alfred.peter.born@regionh.dk. 3. Molecular Genetics Laboratory, Dept. of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen E, Denmark. Electronic address: jakob.ek@regionh.dk. 4. Molecular Genetics Laboratory, Dept. of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen E, Denmark. Electronic address: morten.dunoe@regionh.dk. 5. Department of Children and Youth, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen E, Denmark. Electronic address: peter.uldall@regionh.dk.
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.
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.