Carbohydrate‐deficient glycoprotein syndrome with previously unreported features
- 1 August 1994
- journal article
- case report
- Published by Wiley in Acta Paediatrica
- Vol. 83 (8), 892-896
- https://doi.org/10.1111/j.1651-2227.1994.tb13166.x
Abstract
A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.Keywords
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