1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog 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> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Neurologic course of congenital disorders of glycosylation Publisher An entity responsible for making the resource available Journal Of Child Neurology Date A point or period of time associated with an event in the lifecycle of the resource 2001 Subject The topic of the resource 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 An entity primarily responsible for making the resource Pearl PL; Krasnewich D Description An account of the resource 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 An unambiguous reference to the resource within a given context <a href="http://doi.org/10.2310/7010.2001.7199" target="_blank" rel="noreferrer">10.2310/7010.2001.7199</a> Rights Information about rights held in and over the resource 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 The nature or genre of the resource 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