Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.
Central Nervous System Neoplasms
/ etiology
Congenital Disorders of Glycosylation
/ complications
Craniofacial Abnormalities
/ etiology
Developmental Disabilities
/ etiology
Diet, Ketogenic
Drug Resistant Epilepsy
/ diagnosis
Female
Hemangioma
/ etiology
Humans
Infant
Male
Mannosyltransferases
/ genetics
Twins
Exome Sequencing
ALG3
Congenital disorders of glycosylation
Developmental delay
Hemangioma
Intractable epilepsy
Ketogenic diet
Journal
Brain & development
ISSN: 1872-7131
Titre abrégé: Brain Dev
Pays: Netherlands
ID NLM: 7909235
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
27
11
2019
revised:
23
03
2020
accepted:
19
04
2020
pubmed:
12
5
2020
medline:
9
3
2021
entrez:
12
5
2020
Statut:
ppublish
Résumé
Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions. We studied two siblings by whole exome sequencing. A pathogenic variant in ALG3 (NM_005787.6: c.165C > T; p.Gly55=) that had been previously associated with congenital glycolysis defect type 1d was identified. Their intractable seizures were controlled by ketogenic diet. Although prominent findings of growth retardation and microcephaly seen in our patients have been extensively reported before, presence of hemangioma is a novel finding that may be used as an indication for ALG3-CDG diagnosis. Our patients are the first reported cases whose intractable seizures were controlled with ketogenic diet. This report adds ketogenic diet as an option for treatment of intractable epilepsy in ALG3-CDG.
Sections du résumé
BACKGROUND
BACKGROUND
Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far.
CASE
METHODS
Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions.
RESULTS
RESULTS
We studied two siblings by whole exome sequencing. A pathogenic variant in ALG3 (NM_005787.6: c.165C > T; p.Gly55=) that had been previously associated with congenital glycolysis defect type 1d was identified. Their intractable seizures were controlled by ketogenic diet.
CONCLUSION
CONCLUSIONS
Although prominent findings of growth retardation and microcephaly seen in our patients have been extensively reported before, presence of hemangioma is a novel finding that may be used as an indication for ALG3-CDG diagnosis. Our patients are the first reported cases whose intractable seizures were controlled with ketogenic diet. This report adds ketogenic diet as an option for treatment of intractable epilepsy in ALG3-CDG.
Identifiants
pubmed: 32389449
pii: S0387-7604(20)30126-1
doi: 10.1016/j.braindev.2020.04.008
pmc: PMC7906126
mid: NIHMS1669883
pii:
doi:
Substances chimiques
ALG3 protein, human
EC 2.4.1.-
Mannosyltransferases
EC 2.4.1.-
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
539-545Subventions
Organisme : NHGRI NIH HHS
ID : UM1 HG008900
Pays : United States
Organisme : Medical Research Council
ID : MR/N025431/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N010035/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1000848
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N025431/2
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Informations de copyright
Copyright © 2020 The Japanese Society of Child Neurology. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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