Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
Eur J Paediatr Neurol
; 22(3): 525-531, 2018 May.
Article
em En
| MEDLINE
| ID: mdl-29337005
ABSTRACT
OBJECTIVES:
To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and ß-dystroglycan previously reported in a consanguineous Israeli-Arab family.METHODS:
We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation.RESULTS:
The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia).CONCLUSIONS:
The novel association of cobblestone malformation with tectocerebellar dysraphia as part of WWS is characteristic of the homozygous c.743C > del frameshift mutation in the DAG1 gene.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Distroglicanas
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Síndrome de Walker-Warburg
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Female
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Humans
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Male
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Pregnancy
Idioma:
En
Revista:
Eur J Paediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2018
Tipo de documento:
Article