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Dandy-Walker malformation

Wednesday 23 May 2007

Dandy-Walker malformation is defined by cerebellar vermis hypoplasia with upward rotation and cystic dilation of the fourth ventricle. Dandy-Walker malformation is a common but poorly understood congenital cerebellar malformation in humans.

Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus.

DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely.

Synopsis

- partial or complete absence of cerebellar vermis
- cystic dilation of the fourth ventricle (dilated fourth ventricle)
- hydrocephalus
- bulging occiput
- cranial nerve palsies
- nystagmus
- truncal ataxia

Radiology

- elevated imprint of the transverse sinuses
- thinning and bulging of posterior fossa bones
- posterior fossa cyst at the fourth ventricle

Etiology

- isolated Dandy-Walker malformation (nonsyndromal DWM) (MIM.220200)

  • autosomal recessive inheritance (3q24)

- ZIC1-ZIC4 heterozygous deletion at 3q2 (15338008)

- genetic metabolic diseases

  • congenital disorder of glycosylation type 2d (CDG type 2d, CDG IId) (MIM.607091)

- associated Dandy-Walker malformation

  • syndromal Dandy-Walker malformation
  • other associations
    • DWM with atrioventricular septal defect (ASD) (MIM.220210)
    • DWM with sagittal craniosynostosis and hydrocephalus (MIM.123155)
    • DWM with mental retardation, macrocephaly, myopia and brahytelephalangy (MIM.220219)
    • DWM with postaxial polydactyly (MIM.220220)
    • DWM with CHiari malformation type 1 (MIM.118420)
    • DWM with renal-hepatic-pancreatic dysplasia (MIM.267010)
    • DWM with mental retardation, basal ganglia disease and seizures (MIM.304440)