A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome. (November 2015)

• Record Type: Journal Article
• Authors: Drivenes, Bergitte; Born, Alfred Peter; Ek, Jakob; Dunoe, Morten; Uldall, Peter Vilhelm
• Is Part Of: European journal of paediatric neurology. Volume 19:Number 6(2015:Nov.)
• Page Start: 719
• Page End: 721
• Publication Date: 2015-11
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2015.07.010
• Languages: English
• ISSNs: 1090-3798

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title id="sectitle0010">Abstract</title> <sec> <title id="section-title0005d">Introduction</title> <p id="abspara0010">DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia.</p> </sec> <sec> <title id="section-title0005a">Clinical presentation</title> <p id="abspara0015">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.</p> </sec> <sec> <title id="section-title0005b">Outcome</title> <p id="abspara0020">A specific analysis of the <italic>SGCE</italic> gene was subsequently initiated, which revealed a pathogenic aberration confirming the diagnosis of DYT11.</p> </sec> <sec> <title id="section-title0005">Conclusion</title> <p id="abspara0025">A clinical DYT11 diagnosis can be difficult to establish in early childhood without a known family history.</p> </sec> </abstract>