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Carbohydrate-deficient glycoprotein syndrome with previously unreported features
F Eyskens1, C Ceuterick, J J Martin
1General Pediatric Hospital, Antwerp, Belgium.
Acta Paediatrica (Oslo, Norway : 1992)
|August 1, 1994
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.