Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.
Congenital disorder of glycosylation
Congenital microcephaly
Fetal brain disruption sequence
Fetal magnetic resonance imaging
Journal
Pediatric neurology
ISSN: 1873-5150
Titre abrégé: Pediatr Neurol
Pays: United States
ID NLM: 8508183
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
29
10
2018
revised:
17
12
2018
accepted:
18
12
2018
pubmed:
17
2
2019
medline:
28
4
2020
entrez:
17
2
2019
Statut:
ppublish
Résumé
Arrest of fetal brain development and the fetal brain disruption sequence describe a severe phenotype involving microcephaly, occipital bone prominence, and scalp rugae. Congenital disorders of glycosylation are a heterogeneous group of inherited disorders involved in glycoprotein and glycolipid biosynthesis, which can cause microcephaly and severe neurodevelopmental disability. We report an example of fetal microcephaly diagnosed at 36 weeks' gestation with a history of normal fetal biometry at 20 weeks' gestation. Postnatal genetic testing was performed. Fetal magnetic resonance imaging at 36 weeks' gestational age showed severe cortical thinning with a simplified gyral pattern for gestational age, ventriculomegaly, and agenesis of the corpus callosum. The fetal skull had a posterior shelf at the level of the lambdoid suture, characteristic of fetal brain disruption sequence. Postnatal brain magnetic resonance imaging found no brain growth during the interval from the fetal to postnatal study. The infant was found to have biallelic pathologic mutations in ALG11. Arrest of fetal brain development, with image findings consistent with fetal brain disruption sequence, is a previously unreported phenotype of congenital microcephaly in ALG11-congenital disorder of glycosylation. ALG11-congenital disorder of glycosylation should be considered in the differential diagnosis of this rare form of congenital microcephaly.
Sections du résumé
BACKGROUND
Arrest of fetal brain development and the fetal brain disruption sequence describe a severe phenotype involving microcephaly, occipital bone prominence, and scalp rugae. Congenital disorders of glycosylation are a heterogeneous group of inherited disorders involved in glycoprotein and glycolipid biosynthesis, which can cause microcephaly and severe neurodevelopmental disability.
METHODS
We report an example of fetal microcephaly diagnosed at 36 weeks' gestation with a history of normal fetal biometry at 20 weeks' gestation. Postnatal genetic testing was performed.
RESULTS
Fetal magnetic resonance imaging at 36 weeks' gestational age showed severe cortical thinning with a simplified gyral pattern for gestational age, ventriculomegaly, and agenesis of the corpus callosum. The fetal skull had a posterior shelf at the level of the lambdoid suture, characteristic of fetal brain disruption sequence. Postnatal brain magnetic resonance imaging found no brain growth during the interval from the fetal to postnatal study. The infant was found to have biallelic pathologic mutations in ALG11.
CONCLUSIONS
Arrest of fetal brain development, with image findings consistent with fetal brain disruption sequence, is a previously unreported phenotype of congenital microcephaly in ALG11-congenital disorder of glycosylation. ALG11-congenital disorder of glycosylation should be considered in the differential diagnosis of this rare form of congenital microcephaly.
Identifiants
pubmed: 30770273
pii: S0887-8994(18)31157-3
doi: 10.1016/j.pediatrneurol.2018.12.009
pmc: PMC6450714
mid: NIHMS1517408
pii:
doi:
Substances chimiques
ALG11 protein, human
EC 2.4.1.-
Mannosyltransferases
EC 2.4.1.-
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
64-69Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK099551
Pays : United States
Informations de copyright
Copyright © 2018 Elsevier Inc. All rights reserved.
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