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 (alpha1-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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1023/a:1015628810892 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
-Associated Paroxysmal Dystonia.
Tremor Other Hyperkinet Mov (N Y)
December 2024
Veracity Neuroscience LLC, Memphis, Tennessee, USA.
Background: mutations are associated with a diverse set of distinct neurological syndromes and intermediate phenotypes that may include extra-neural features. Overall, genotype-phenotype correlations are weak. There are no consensus treatments.
View Article and Find Full Text PDFClinical Reasoning: A Young Adult With New Seizures and Chapeau de Gendarme.
Neurology
October 2023
From the Department of Child Neurology (A.V.), University of California, San Francisco; Department of Neurology (A.G.D.), University of Pennsylvania, Philadelphia; and Department of Neurology (R.C.K., M.S., J.K.K.), University of California, San Francisco.
The evaluation of new seizures is a common clinical query for neurologists. It can be challenging to delineate between the numerous etiologies of new focal or generalized seizures and, if focal, to localize their onset. In this case report, we present a 26-year-old patient with a new onset of stereotyped events concerning for seizures featuring facial grimacing, dystonic left-hand posturing, and convulsions with immediate return to baseline.
View Article and Find Full Text PDFAlternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Medicine (Baltimore)
August 2022
Unit of Catania, National Council of Research, Institute for Research and Biomedical Innovation (IRIB), Catania, Italy.
Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysmal manifestations of tonic and dystonic attacks, nystagmus with other oculomotor abnormalities, respiratory and autonomic dysfunctions. AHC is often associated with epileptic seizures and developmental delay. Hemiplegic paroxysm is the most remarkable symptom, although AHC includes a large series of clinical manifestations that interfere with the disease course.
View Article and Find Full Text PDFDesign and custom fabrication of specialized orthoses for the upper-limb stabilization in childhood dyskinesia.
Prosthet Orthot Int
December 2022
Institute of Condensed Matter Chemistry and Technologies for Energy, National Research Council of Italy, Lecco, Italy.
Background: Childhood dyskinesia (CD) is a complex movement disorder with components of dystonic and hyperkinetic nature, characterized by involuntary, sometimes stereotypical postures and gestures that are often impossible to control and hinder the execution of willful motion. The standard orthoses for the treatment of neurological diseases, including CD, are generally poorly differentiated for functional characteristics. The application of similar devices for movement disorders is far less generalized because of the very different symptoms, including the incapacity to control rather than initiate movement.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!