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A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy

We report the clinical findings and the diagnostic work-up of a 17-month-old girl with CDG-x. Predominant clinical signs were, besides psychomotor retardation and truncal hypotonia, stereotyped dystonic hand movements and ophthalmological abnormalities such as optic atrophy, nystagmus and strabismus...

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Main Authors: Prietsch, Viola (Author) , Peters, Verena (Author) , Hackler, R. (Author) , Jakobi, R. (Author) , Assmann, Birgit (Author) , Fang-Hoffmann, Junmin (Author) , Körner, Christian (Author) , Helwig-Rolig, Angelika (Author) , Schaefer, J. R. (Author) , Hoffmann, Georg F. (Author)
Format: Article (Journal)
Language:English
Published: 01 May 2002
In: Journal of inherited metabolic disease
Year: 2002, Volume: 25, Issue: 2, Pages: 126-130
ISSN:1573-2665
DOI:10.1023/A:1015628810892
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1023/A:1015628810892
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1023/A%3A1015628810892
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Author Notes:V. Prietsch, V. Peters, R. Hackler, R. Jakobi, B. Assmann, J. Fang, C. Körner, A. Helwig-Rolig, J.R. Schaefer, G.F. Hoffmann
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Summary:We report the clinical findings and the diagnostic work-up of a 17-month-old girl with CDG-x. Predominant clinical signs were, besides psychomotor retardation and truncal hypotonia, stereotyped dystonic hand movements and ophthalmological abnormalities such as optic atrophy, nystagmus and strabismus. Other symptoms that are often found in patients with CDG were not present, such as seizures, microcephaly, cerebellar hypoplasia, dysmorphic features, hepatointestinal disease, coagulopathy or multiorgan involvement. Isoelectric focusing (IEF) of the patient's serum showed a marked elevation of disialotransferrin, thus confirming an IEF type 1 pattern. A generalized glycosylation defect was confirmed also by IEF of a further glycoprotein (α1-antitrypsin), an increased carbohydrate deficient transferrin (CDT) serum concentration and an increased CDT/transferrin ratio. All known types of CDG-I, secondary glycosylation abnormalities and variants of amino acid sequence were excluded.
Item Description:Gesehen am 31.03.2022
Physical Description:Online Resource
ISSN:1573-2665
DOI:10.1023/A:1015628810892

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