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Text
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URL Address
<a href="http://doi.org/10.2310/7010.2001.7199" target="_blank" rel="noreferrer">http://doi.org/10.2310/7010.2001.7199</a>
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Title
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Neurologic course of congenital disorders of glycosylation
Publisher
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Journal Of Child Neurology
Date
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2001
Subject
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Child; Female; Humans; Male; Magnetic Resonance Imaging; Preschool; infant; Q3 Literature Search; Brain Diseases; Metabolic; Epilepsy/diagnosis; Brain/pathology/physiopathology; Neurologic Examination; Magnetic Resonance Spectroscopy; Developmental Disabilities/diagnosis; Aspartic Acid/analogs & derivatives/metabolism; Carbohydrate-Deficient Glycoprotein Syndrome/diagnosis; Inborn/diagnosis; Lactic Acid/metabolism; Nerve Degeneration/diagnosis; Stroke/diagnosis
Creator
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Pearl PL; Krasnewich D
Description
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Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and neuropathy. The metabolic defect is in N-linked oligosaccharide synthesis, and diagnosis is made by a serum transferrin isoelectric focusing. We reviewed the neurologic course of 10 children with congenital disorders of glycosylation (ages 13 months to 7 years). All had severe developmental delay and ataxia; none walked unassisted, and the highest level of communication was simple sign language in one patient. Five of 10 children had seizures (absence, complex partial, tonic clonic). Only one patient has had strokelike episodes, despite reports that they are common in this population. The underlying basis of these episodes has been hypothesized to be coagulopathy due to dysfunctional, incorrectly glycosylated coagulation factors. This 5-year-old patient with congenital disorders of glycosylation type Ia had two strokelike episodes, with evolving hemiparesis over 5 to 6 days' duration, followed by focal tonic-clonic seizures. Coagulation studies were normal. Electroencephalography showed transient hemispheric polymorphous delta-range slowing and suppression. Magnetic resonance imaging revealed corresponding cortical swelling. Magnetic resonance angiography was normal. Magnetic resonance spectroscopy revealed a decrease in the N-acetylaspartate peak, suggesting neuronal loss, with normal lactate peak. The neuroradiologic data do not support a thrombotic, embolic, or hemorrhagic basis for strokelike episodes in carbohydrate-deficient glycoprotein syndrome; other mechanisms must be considered.
2001
Identifier
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<a href="http://doi.org/10.2310/7010.2001.7199" target="_blank" rel="noreferrer">10.2310/7010.2001.7199</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2001
Aspartic Acid/analogs & derivatives/metabolism
Backlog
Brain Diseases
Brain/pathology/physiopathology
Carbohydrate-Deficient Glycoprotein Syndrome/diagnosis
Child
Developmental Disabilities/diagnosis
Epilepsy/diagnosis
Female
Humans
Inborn/diagnosis
Infant
Journal Article
Journal of Child Neurology
Krasnewich D
Lactic Acid/metabolism
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Male
Metabolic
Nerve Degeneration/diagnosis
Neurologic Examination
Pearl PL
Preschool
Q3 Scoping Review Results
Stroke/diagnosis