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


METHODS
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.


CONCLUSIONS
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.
Miossec-Chauvet
E
E
Neurology Department, Cochin-Saint-Vincent de Paul Hospital, AP-HP, France.
Mikaeloff
Y
Y
Heron
D
D
Merzoug
V
V
Cormier-Daire
V
V
de Lonlay
P
P
Matthijs
G
G
Van Hulle
C
C
Ponsot
G
G
Seta
N
N
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D009422:Nervous System Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D012189:Retrospective Studies; D012720:Severity of Illness Index