✦ LIBER ✦

Central nervous system malformations in ethylmalonic encephalopathy

✍ Scribed by Nowaczyk, M.J.M.; Blaser, S.I.; Clarke, J.T.R.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 35 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980123)75:3<292::aid-ajmg13>3.0.co;2-k

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✦ Synopsis

Central nervous system malformations have been reported in a number of inherited enzyme defects. Ethylmalonic encephalopathy, an organic aciduria of unknown pathogenesis, has not been reported previously in association with brain or spinal cord malformations. We report on 2 sibs with confirmed ethylmalonic encephalopathy and malformations of the central nervous system; one with tethered cord, the other with cerebellar tonsillar ectopia (Chiari I malformation).

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