title: Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
abstract: BACKGROUND
  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.
  
  
  METHODS
  We describe a 5 year old girl from Syrian Jewish origin with an atypical presentation of Costeff syndrome.
  
  
  RESULTS
  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 OPA3 gene.
  
  
  CONCLUSIONS
  Costeff syndrome may present in an atypical manner regarding the ethnic origin, clinical manifestations and co-occurrence of epilepsy. Mutations in OPA3 should be evaluated in all cases presenting with the core features of typical Costeff syndrome.
authors.affiliation: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
authors.forename: Nirit
authors.initials: N
authors.lastname: Carmi
authors.affiliation: Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.affiliation: Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Esther
authors.initials: E
authors.lastname: Leshinsky-Silver
authors.affiliation: Molecular Genetics Laboratory, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Yair
authors.initials: Y
authors.lastname: Anikster
authors.affiliation: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Lubov
authors.initials: L
authors.lastname: Blumkin
authors.affiliation: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
authors.forename: Sara
authors.initials: S
authors.lastname: Kivity
authors.affiliation: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
authors.affiliation: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel. Electronic address: ayeletzerem@gmail.com.
authors.forename: Ayelet
authors.initials: A
authors.lastname: Zerem
mesh_terms: D001480:Basal Ganglia Diseases / Q000209:etiology; D002675:Child, Preschool; D002819:Chorea / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D003241:Consanguinity; D004569:Electroencephalography; D005260:Female; D005977:Glutarates / Q000652:urine; D006801:Humans; D007585:Jews; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009128:Muscle Spasticity / Q000209:etiology; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D011506:Proteins / Q000235:genetics; D011595:Psychomotor Agitation / Q000209:etiology*; D012640:Seizures / Q000209:etiology; D012890:Sleep; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D013226:Status Epilepticus / Q000209:etiology*
chemical_list: D005977:Glutarates; C443108:OPA3 protein, human; D011506:Proteins; C022034:3-methylglutaconic acid
keywords: Choreoathetosis; Epilepsy; Neurodegenerative disease; Optic atrophy plus syndrome; Spasticity