title: Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
abstract: Epilepsy is commonly observed in congenital disorders of glycosylation (CDG), but no distinctive electroclinical pattern has been recognized. We aimed at identifying a characteristic clinical presentation that might help targeted diagnostic work-up.
  
  
  
  Based on the initial observation of an index case with CDG and migrating partial seizures, we evaluated 16 additional children with CDG and analysed their clinical course, biochemical, genetic, electrographic, and imaging findings.
  
  
  
  Four of 17 consecutively observed children with CDG (three females, one male) were first referred between the first and fourth month of life, after early onset of migrating partial seizures. All four patients manifested developmental delay, microcephaly, and multi-organ involvement. Magnetic resonance imaging disclosed cerebral and cerebellar atrophy. Isoelectrofocusing of transferrin, enzymatic studies, and lipid-linked oligosaccharide analysis indicated CDG-I. Genetic testing demonstrated either homozygous or compound heterozygous variants involving the ALG3 gene in patients 1 and 3, the RFT1 gene in patient 2, and the ALG1 gene in patient 4. At last follow-up, patients 1 and 2 were 5 and 3(1/2) years old. Patients 3 and 4 had died due to respiratory failure during pneumonia and refractory status epilepticus respectively.
  
  
  
  Children with migrating partial seizures and concomitant multisystem involvement should be investigated for CDG.
authors.affiliation: Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital - University of Florence, Florence, Italy.
authors.forename: Carmen
authors.initials: C
authors.lastname: Barba
authors.affiliation: Child Neuropsychiatry, University-Hospital of Verona, Verona, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Darra
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Cusmai
authors.affiliation: Metabolic Unit, A. Meyer Children's Hospital - University of Florence, Florence, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Procopio
authors.affiliation: Metabolic Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi Vici
authors.affiliation: Centrum Menselijke Erfelijkheid, UZ Leuven, Leuven, Belgium.
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Keldermans
authors.affiliation: Biochemistry and Genetic Laboratory, AP-HP, Bichat Hospital, Paris, France.
authors.forename: Sandrine
authors.initials: S
authors.lastname: Vuillaumier-Barrot
authors.affiliation: Department of Neurology, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Dirk J
authors.initials: DJ
authors.lastname: Lefeber
authors.affiliation: Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital - University of Florence, Florence, Italy.|IRCCS Stella Maris, Pisa, Italy.
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000209:etiology; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000175:diagnosis*; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000209:etiology; D004828:Epilepsies, Partial / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000209:etiology