title: Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities.
abstract: Clinical and pathological findings are reported in two siblings who presented in the neonatal period with failure to thrive, hypotonia, pericardial effusions, limitation of joint movement, retinal dystrophy and loss of visual function. Additional features were biochemical evidence of purine overproduction and liver dysfunction. Post mortem, the neuropathological findings in both children were typical of olivopontocerebellar atrophy. It is suggested that the cases represent a recessively inherited inborn error of metabolism.
authors.affiliation: Institute of Neurology, National Hospitals for Nervous Diseases, London, UK.
authors.forename: B N
authors.initials: BN
authors.lastname: Harding
authors.forename: D B
authors.initials: DB
authors.lastname: Dunger
authors.forename: D B
authors.initials: DB
authors.lastname: Grant
authors.forename: M
authors.initials: M
authors.lastname: Erdohazi
mesh_terms: D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D003404:Creatinine / Q000652:urine; D005183:Failure to Thrive / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008111:Liver Function Tests; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000235:genetics* / Q000473:pathology; D011687:Purines / Q000097:blood; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D014527:Uric Acid / Q000652:urine
chemical_list: D011687:Purines; D014527:Uric Acid; D003404:Creatinine