Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. (November 2015)

• Record Type: Journal Article
• Authors: Carmi, Nirit; Lev, Dorit; Leshinsky-Silver, Esther; Anikster, Yair; Blumkin, Lubov; Kivity, Sara; Lerman-Sagie, Tally; Zerem, Ayelet
• Is Part Of: European journal of paediatric neurology. Volume 19:Number 6(2015:Nov.)
• Page Start: 733
• Page End: 736
• 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.2015.06.006
• Languages: English
• ISSNs: 1090-3798

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010r"> <title id="sectitle0010t">Abstract</title> <sec> <title id="sectitle0015i">Background</title> <p id="abspara0010x">Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of ataxia and spasticity. Costeff syndrome is prevalent among Iraqi Jews.</p> </sec> <sec> <title id="sectitle0020x">Methods</title> <p id="abspara0015v">We describe a 5 year old girl from Syrian Jewish origin with an atypical presentation of Costeff syndrome.</p> </sec> <sec> <title id="sectitle0030j">Results</title> <p id="abspara0025m">The patient presented with asymmetric optic atrophy, severe dystonia and choreoathetosis and global developmental regression at the age of 7 months; no achievement of independent walking and only minimal speech; and appearance of electrical status epilepticus during slow wave sleep in the second year of life with further deterioration. She harbors the classic mutation (c.143-1G > C) in the <italic>OPA3</italic> gene.</p> </sec> <sec> <title id="sectitle0035v">Conclusion</title> <p id="abspara0030r">Costeff syndrome may present in an atypical manner regarding the ethnic origin, clinical manifestations and co-occurrence of epilepsy. Mutations in <italic>OPA3</italic> should be evaluated in all cases presenting with the core features of typical Costeff syndrome.</p> </sec> </abstract>