title: Epileptic spasms in congenital disorders of glycosylation.
abstract: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG and epileptic spasms. Epileptic spasms were observed in patients with ALG1-, ALG6, ALG11-CDG and CDG-Ix, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months. In this patient, spasms had an unusual aspect; they did not occur in clusters and were immediately preceded by a myoclonus. All but one child also presented rare myoclonias. On EEG, background activity was poorly organized with abundant posterior spike and fast rhythm activity, but without hypsarrhythmia. At the last evaluation (age range: 6-12 years), two patients still presented epileptic spasms and subcortical myoclonias, one showed rare generalized tonic-clonic seizures, and two were seizure-free. CDG disorders can be associated with epileptic spasms showing particular features, such as absence of hypsarrhythmia, posterior EEG anomalies, and an unusual combination of epileptic spasms with myoclonus. These features, associated with pre-existing developmental delay and subcortical myoclonias, may shift toward CDG screening. [Published with video sequence and supplemental EEG plates on www.epilepticdisorders.com].
authors.affiliation: Pediatric Neurology Service, Dona Estefânia Hospital, Centro Hospitalar Lisboa Central, EPE, Lisbon, Portugal.
authors.forename: Andreia G
authors.initials: AG
authors.lastname: Pereira
authors.affiliation: Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris, INSERM U781, Paris Descartes University, Paris.
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
authors.affiliation: Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris.
authors.forename: Christine
authors.initials: C
authors.lastname: Barnerias
authors.affiliation: Pediatric Radiology Department, Necker Enfants Malades Hospital, Paris, INSERM UMR1163 and U1000, Institut Imagine, Paris Descartes University, Paris.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.affiliation: Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris.
authors.forename: Rima
authors.initials: R
authors.lastname: Nabbout
authors.affiliation: Center of Metabolism, Necker Enfants Malades Hospital, Paris, Institut Imagine, Paris Descartes University APHP, Paris.
authors.forename: Pascale
authors.initials: P
authors.lastname: de Lonlay
authors.affiliation: Department of Clinical Neurophysiology, Necker Enfants Malades Hospital, Paris, INSERM U1129, Paris, France; Paris Descartes University, CEA, Gif sur Yvette, Paris, France.
authors.forename: Anna
authors.initials: A
authors.lastname: Kaminska
authors.affiliation: Department of Clinical Neurophysiology, Necker Enfants Malades Hospital, Paris, INSERM U1129, Paris, France; Paris Descartes University, CEA, Gif sur Yvette, Paris, France.
authors.forename: Monika
authors.initials: M
authors.lastname: Eisermann
mesh_terms: D000293:Adolescent; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013036:Spasms, Infantile / Q000209:etiology / Q000503:physiopathology*
keywords: congenital disorders of glycosylation; epilepsy; epileptic spasms; myoclonus