Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
Eur J Paediatr Neurol
; 19(6): 733-6, 2015 Nov.
Article
en En
| MEDLINE
| ID: mdl-26190011
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Agitación Psicomotora
/
Estado Epiléptico
/
Paraplejía Espástica Hereditaria
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Atrofia Óptica
/
Corea
/
Errores Innatos del Metabolismo
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Paediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Israel