Costeff syndrome
Evidence-based neurology checklist on costeff syndrome: Genetics This is caused by mutations in the optic atrophy 3 (OPA3) gene The transmission is autosomal recessive It mainly affects people of Iraqi Jewish descent The onset is in infancy or early childhood Clinical features Urinary features…
Genetics
- This is caused by mutations in the optic atrophy 3 (OPA3) gene
- The transmission is autosomal recessive
- It mainly affects people of Iraqi Jewish descent
- The onset is in infancy or early childhood
Clinical features
Urinary features
Differential diagnosis
Synonyms
References
- Ho G, Walter JH, Christodoulou J. Costeff optic atrophy syndrome: new clinical case and novel molecular findings. J Inherit Metab Dis 2008; 31(Suppl 2):S419-S423.
- Yahalom G, Anikster Y, Huna-Baron R, et al. Costeff syndrome: clinical features and natural history. J Neurol 2014; 261:2275-2282.
- Elpeleg ON, Costeff H, Joseph A, Shental Y, Weitz R, Gibson KM. 3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. Dev Med Child Neurol 1994; 36:167-172.
- Carmi N, Lev D, Leshinsky-Silver E, Anikster Y, et al. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. Eur J Paediatr Neurol 2015; 19:733-736.
- Pantaleoni C, D'Arrigo S, D'Incerti L, Rimoldi M, Riva D. A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. Pediatr Neurol 2000; 23:442-444.
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