Neurologic course of congenital disorders of glycosylation

Title

Neurologic course of congenital disorders of glycosylation

Creator

Pearl PL; Krasnewich D

Publisher

Journal Of Child Neurology

Date

2001

Subject

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

Description

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

Rights

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

Journal Article

Citation List Month

Backlog

Pages

409-413

Issue

6

Volume

16

Citation

Pearl PL; Krasnewich D, “Neurologic course of congenital disorders of glycosylation,” Pediatric Palliative Care Library, accessed October 24, 2021, https://pedpalascnetlibrary.omeka.net/items/show/11757.

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