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Carbohydrate‐deficient glycoprotein syndrome with previously unreported features
Author(s) -
Eyskens F,
Ceuterick C,
Martin JJ,
Janssens G,
Jaeken J
Publication year - 1994
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1994.tb13166.x
Subject(s) - medicine , glycoprotein , carbohydrate , biochemistry , chemistry
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.