Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia

Title

Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia

Creator

Miossec-Chauvet E; Mikaeloff Y; Heron D; Merzoug V; Cormier-Daire V; De Lonlay P; Matthijs G; Van Hulle C; Ponsot G; Seta N

Publisher

Neuropediatrics

Date

2003

Subject

Child; Female; Humans; Male; Adult; Severity of Illness Index; adolescent; Preschool; infant; Q3 Literature Search; retrospective studies; Age of Onset; Carbohydrate-Deficient Glycoprotein Syndrome/complications/diagnosis/genetics; Mental Disorders/diagnosis/etiology/genetics; Nervous System Diseases/diagnosis/etiology/genetics

Description

OBJECTIVE: Congenital disorders of glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndromes, constitute a newly identified group of multisystem disorders characterized by defective glycosylation of N-glycosylated proteins. The objective of this work was to describe precisely neurological findings in patients with type Ia CDG (CDG-Ia) and to compare our results with the literature. STUDY DESIGN: We retrospectively reviewed neurological and neurodevelopmental, neuroimaging, and genetic features in ten patients with CDG-Ia who mainly presented with neurological abnormalities during childhood and therefore were referred to a neuropediatrician or a neurogeneticist. RESULTS: Neurological manifestations had a static clinical course, dominated by mental retardation and cerebellar dysfunction, and acute episodes: stroke-like episodes and seizures. However, microcephaly, retinopathy, and polyneuropathy were progressive. All patients had severe global neurodevelopmental delay: only one was able to walk alone at ten years of age and only one could read. Marked heterogeneity in manifestations and delay of diagnosis was noted across the patients. Cerebellar hypoplasia was found by magnetic resonance imaging in all ten patients and olivopontocerebellar hypoplasia in four patients. As in the literature, there was no clear phenotype-mutation correlation. CONCLUSION: Our findings confirm the importance of a precise and complete description of the neurological and neuroradiological phenotype delineating the phenotype of CDG-Ia to increase the likelihood of diagnosing the disease.
2003

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

Citation

Miossec-Chauvet E; Mikaeloff Y; Heron D; Merzoug V; Cormier-Daire V; De Lonlay P; Matthijs G; Van Hulle C; Ponsot G; Seta N, “Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia,” Pediatric Palliative Care Library, accessed May 23, 2024, https://pedpalascnetlibrary.omeka.net/items/show/12926.