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.

CONCLUSION:

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: Nirit Carmi, Dorit Lev, Esther Leshinsky-Silver, Yair Anikster, Lubov Blumkin, Sara Kivity, Tally Lerman-Sagie, Ayelet Zerem
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 19 Issue 6 Pg. 733-6 (Nov 2015) ISSN: 1532-2130 [Electronic] England
• PMID: 26190011 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Chemical References

• Glutarates
• OPA3 protein, human
• Proteins
• 3-methylglutaconic acid

Topics

• Basal Ganglia Diseases (etiology)
• Child, Preschool
• Chorea (diagnosis, genetics, physiopathology)
• Consanguinity
• Electroencephalography
• Female
• Glutarates (urine)
• Humans
• Jews
• Metabolism, Inborn Errors (diagnosis, genetics, physiopathology)
• Muscle Spasticity (etiology)
• Optic Atrophy (diagnosis, genetics, physiopathology)
• Proteins (genetics)
• Psychomotor Agitation (etiology)
• Seizures (etiology)
• Sleep
• Spastic Paraplegia, Hereditary (diagnosis, genetics, physiopathology)
• Status Epilepticus (etiology)