Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.
Am J Med Genet A
; 167A(10): 2411-7, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-26033833
ABSTRACT
Congenital disorders of Glycosylation (CDG) are increasingly emerging as a major underlying etiology for patients with complex neurogenetic malformations and dysmorphic features. We describe a newborn female with arthrogryposis multiplex due to fetal akinesia secondary to CDG-DPAGT1. Pregnancy was complicated by reduced fetal movements. At birth, the patient was evaluated for intrauterine growth restriction, bilateral cataracts, and multiple joint contractures. She had markedly reduced spontaneous movements, hypotonia, weak cry, and poor suck. She had ventilator-dependent central respiratory depression. Brain MRI showed delayed myelination and an incomplete cerebellar vermis. Transferrin isoelectric focusing was suggestive of a type I congenital disorder of glycosylation. Sequencing revealed a homozygous missense mutation in dolichyl-phosphate N-acetylglucosaminephosphotransferase (DPAGT1), exon 3, p.Leu118Val, consistent with DPAGT1-CDG. There have been seventeen previously reported cases of DPAGT1-CDG, including two similar cases with multiple contractures. This case highlights the importance of considering congenital disorders of glycosylation in the differential diagnosis for arthrogryposis.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artrogripose
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Anormalidades Múltiplas
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Fissura Palatina
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N-Acetilglucosaminiltransferases
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Deformidades Congênitas dos Membros
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Defeitos Congênitos da Glicosilação
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Contratura
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Mutação de Sentido Incorreto
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Hidrocefalia
Tipo de estudo:
Diagnostic_studies
Limite:
Female
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Humans
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Newborn
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2015
Tipo de documento:
Article