A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome.
BACKGROUND
DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia.


METHODS
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.


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


CONCLUSIONS
A clinical DYT11 diagnosis can be difficult to establish in early childhood without a known family history.
Department of Children and Youth, Hvidovre Hospital, Kettegaard alle 30, 2650 Hvidovre, Denmark. Electronic address: bergittedrivenes@gmail.com.
Bergitte
B
Drivenes
Department of Children and Youth, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen E, Denmark. Electronic address: alfred.peter.born@regionh.dk.
Alfred Peter
AP
Born
Molecular Genetics Laboratory, Dept. of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen E, Denmark. Electronic address: jakob.ek@regionh.dk.
Jakob
J
Ek
Molecular Genetics Laboratory, Dept. of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen E, Denmark. Electronic address: morten.dunoe@regionh.dk.
Morten
M
Dunoe
Department of Children and Youth, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen E, Denmark. Electronic address: peter.uldall@regionh.dk.
Peter Vilhelm
PV
Uldall
D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D003907:Dexamethasone / Q000627:therapeutic use; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D059472:Exome; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007116:Immunization, Passive; D007223:Infant; D053578:Opsoclonus-Myoclonus Syndrome / Q000175:diagnosis* / Q000235:genetics; D049031:Sarcoglycans / Q000235:genetics; D013256:Steroids / Q000627:therapeutic use
D000893:Anti-Inflammatory Agents; C526572:SGCE protein, human; D049031:Sarcoglycans; D013256:Steroids; D003907:Dexamethasone
DYT11; Myoclonus-dystonia; Opsoclonus myoclonus syndrome; SGCE gene mutation