Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

Carmen Barba, Francesca Darra, Raffaella Cusmai, Elena Procopio, Carlo Dionisi Vici, Liesbeth Keldermans, Sandrine Vuillaumier-Barrot, Dirk J. Lefeber, Renzo Guerrini, Elena Parrini, Angel Ashikov, Andrea Bordugo, Gaetano Cantalupo, Gianluca Casara, Bernardo Dalla Bernardina, Melania Falchi, Lorenzo Ferri, Diego Martinelli, Amelia Morrone, Valerie RaceAnna Rosati, Erika Souche

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Aim: 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. Method: 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. Results: 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 31/2 years old. Patients 3 and 4 had died due to respiratory failure during pneumonia and refractory status epilepticus respectively. Interpretation: Children with migrating partial seizures and concomitant multisystem involvement should be investigated for CDG.

Original languageEnglish
Pages (from-to)1085-1091
Number of pages7
JournalDevelopmental Medicine and Child Neurology
Volume58
Issue number10
DOIs
Publication statusPublished - Oct 1 2016

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Congenital Disorders of Glycosylation
Brain Diseases
Seizures
Genes
Microcephaly
Status Epilepticus
Genetic Testing
Transferrin
Respiratory Insufficiency
Atrophy
Molecular Biology
Epilepsy
Pneumonia
Magnetic Resonance Imaging
Observation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. / Barba, Carmen; Darra, Francesca; Cusmai, Raffaella; Procopio, Elena; Dionisi Vici, Carlo; Keldermans, Liesbeth; Vuillaumier-Barrot, Sandrine; Lefeber, Dirk J.; Guerrini, Renzo; Parrini, Elena; Ashikov, Angel; Bordugo, Andrea; Cantalupo, Gaetano; Casara, Gianluca; Bernardina, Bernardo Dalla; Falchi, Melania; Ferri, Lorenzo; Martinelli, Diego; Morrone, Amelia; Race, Valerie; Rosati, Anna; Souche, Erika.

In: Developmental Medicine and Child Neurology, Vol. 58, No. 10, 01.10.2016, p. 1085-1091.

Research output: Contribution to journalArticle

Barba, C, Darra, F, Cusmai, R, Procopio, E, Dionisi Vici, C, Keldermans, L, Vuillaumier-Barrot, S, Lefeber, DJ, Guerrini, R, Parrini, E, Ashikov, A, Bordugo, A, Cantalupo, G, Casara, G, Bernardina, BD, Falchi, M, Ferri, L, Martinelli, D, Morrone, A, Race, V, Rosati, A & Souche, E 2016, 'Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy', Developmental Medicine and Child Neurology, vol. 58, no. 10, pp. 1085-1091. https://doi.org/10.1111/dmcn.13141
Barba, Carmen ; Darra, Francesca ; Cusmai, Raffaella ; Procopio, Elena ; Dionisi Vici, Carlo ; Keldermans, Liesbeth ; Vuillaumier-Barrot, Sandrine ; Lefeber, Dirk J. ; Guerrini, Renzo ; Parrini, Elena ; Ashikov, Angel ; Bordugo, Andrea ; Cantalupo, Gaetano ; Casara, Gianluca ; Bernardina, Bernardo Dalla ; Falchi, Melania ; Ferri, Lorenzo ; Martinelli, Diego ; Morrone, Amelia ; Race, Valerie ; Rosati, Anna ; Souche, Erika. / Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. In: Developmental Medicine and Child Neurology. 2016 ; Vol. 58, No. 10. pp. 1085-1091.
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T1 - Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

AU - Barba, Carmen

AU - Darra, Francesca

AU - Cusmai, Raffaella

AU - Procopio, Elena

AU - Dionisi Vici, Carlo

AU - Keldermans, Liesbeth

AU - Vuillaumier-Barrot, Sandrine

AU - Lefeber, Dirk J.

AU - Guerrini, Renzo

AU - Parrini, Elena

AU - Ashikov, Angel

AU - Bordugo, Andrea

AU - Cantalupo, Gaetano

AU - Casara, Gianluca

AU - Bernardina, Bernardo Dalla

AU - Falchi, Melania

AU - Ferri, Lorenzo

AU - Martinelli, Diego

AU - Morrone, Amelia

AU - Race, Valerie

AU - Rosati, Anna

AU - Souche, Erika

PY - 2016/10/1

Y1 - 2016/10/1

N2 - Aim: 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. Method: 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. Results: 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 31/2 years old. Patients 3 and 4 had died due to respiratory failure during pneumonia and refractory status epilepticus respectively. Interpretation: Children with migrating partial seizures and concomitant multisystem involvement should be investigated for CDG.

AB - Aim: 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. Method: 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. Results: 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 31/2 years old. Patients 3 and 4 had died due to respiratory failure during pneumonia and refractory status epilepticus respectively. Interpretation: Children with migrating partial seizures and concomitant multisystem involvement should be investigated for CDG.

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