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A syndrome of olivopontocerebellar atrophy and deafness with onset in infancy
Author(s) -
PratapChand R.,
Gururaj A. K.,
DilipKumar S
Publication year - 1995
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1995.tb00419.x
Subject(s) - olivopontocerebellar atrophy , atrophy , pediatrics , medicine , audiology , psychology , degenerative disease , central nervous system disease , neuroscience
Olivopontocerebellar atrophy (OPCA) is rare in childhood and onset in infancy is uncommon. We encountered 11 consecutive children with clinical and radiological features of OPCA which started in infancy. In addition to cerebellar ataxia, these children also had sensorineural deafness and speech impairment. Of the present cases, 8 were sporadic and the pedigree patterns in 3 (with a sibling also involved) point to an AR inheritance. The CT scan showed varying degrees of cerebellar and ppntine atrophy. The underlying genetic and neurochemical substrates of this syndrome await further study.