Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. (May 2018)

• Record Type: Journal Article
• Authors: Leibovitz, Zvi; Mandel, Hanna; Falik-Zaccai, Tzipora C.; Ben Harouch, Shani; Savitzki, David; Krajden-Haratz, Karina; Gindes, Liat; Tamarkin, Mordechai; Lev, Dorit; Dobyns, William B.; Lerman-Sagie, Tally
• Is Part Of: European journal of paediatric neurology. Volume 22:Number 3(2018:May)
• Page Start: 525
• Page End: 531
• Publication Date: 2018-05
• Subjects: Cobblestone malformation complex -- Dystroglycan -- DAG1 -- Walker-Warburg syndrome -- Tectocerebellar dysraphia; WWS Walker-Warburg Syndrome -- DG dystroglycan -- TCD tectocerebellar dysraphia -- COB cobblestone malformation -- SWI susceptibility weighted imaging; Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2017.12.012
• Languages: English
• ISSNs: 1090-3798

Abstract

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 β-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.