Costeff's syndrome
Related people
A condition characterized by infantile optic atrophy with chorea and spastic paraplegia, mild ataxia, mild cognitive deficiency, dysarthria and 3-methylglutaconic aciduria. Inheritance is autosomal recessive.
We thank Senecky Yehuda for calling our attention to this eponym.
Bibliography
- H. Costeff, O. Elpeleg, N. Apter, P. Divry, N. Gadoth:
3-Methylglutaconic aciduria in "optic atrophy plus".
Annals of Neurology, Boston, 1993, 33: 103-104.
"Behr's syndrome consists of recessively inherited infantile optic atrophy, together with chronic neurological disturbances such as ataxia, extrapyramidal dysfunction, and juvenile spastic paresis. This syndrome was found to be relatively common among Iraqi Jews. For our study, 18 such patients underwent metabolic study. All 18 showed abnormally elevated excretion of 3-methylglutaconic acid in their urine. The basic enzymatic defect is as yet unknown." - O. N. Elpeleg, H. Costeff, A. Joseph, Y. Shental, R. Weitz, K. M. Gibson:
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.
Developmental Medicine and Child Neurology, London, 1994, 36: 167-172. - H. Costeff and O. N. Elpeg:
3-Methylglutaconic aciduria, type 3 [letter; comment].
Brain & Development, New York, 1995, 17: 226.