Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy
CDG Group
Fondazione Stella Maris
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.
Developmental Medicine and Child Neurology
https://doi.org/10.1111/dmcn.13141
10.1111/dmcn.13141
http://www.scopus.com/inward/citedby.url?scp=84985896529&partnerID=8YFLogxK
Dive into the research topics of 'Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy'. Together they form a unique fingerprint.
Congenital Disorders of Glycosylation Medicine & Life Sciences 100%
Seizures Medicine & Life Sciences 49%
lipid-linked oligosaccharides Medicine & Life Sciences 16%
Microcephaly Medicine & Life Sciences 13%
Status Epilepticus Medicine & Life Sciences 12%
CDG Group (2016). Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. Developmental Medicine and Child Neurology, 58(10), 1085-1091. https://doi.org/10.1111/dmcn.13141
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. / CDG Group.
In: Developmental Medicine and Child Neurology, Vol. 58, No. 10, 01.10.2016, p. 1085-1091.
CDG Group 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
CDG Group. Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. Developmental Medicine and Child Neurology. 2016 Oct 1;58(10):1085-1091. doi: 10.1111/dmcn.13141
CDG Group. / 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.
@article{1d00c27ad3e94630a71ff603ada098cf,
title = "Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy",
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.",
author = "Carmen Barba and Francesca Darra and Raffaella Cusmai and Elena Procopio and {Dionisi Vici}, Carlo and Liesbeth Keldermans and Sandrine Vuillaumier-Barrot and Lefeber, {Dirk J.} and Renzo Guerrini and {CDG Group}",
doi = "10.1111/dmcn.13141",
journal = "Developmental Medicine and Child Neurology",
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 - CDG Group
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.
U2 - 10.1111/dmcn.13141
DO - 10.1111/dmcn.13141
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology