Dandy-Walker malformation

Dandy-Walker malformation (DWM) is the most common posterior fossa malformation, characterised by the triad of:

  • hypoplasia of the vermis and cephalad rotation of the vermian remnant
  • cystic dilatation of the fourth ventricle extending posteriorly 
  • enlarged posterior fossa with torcular-lambdoid inversion (torcular lying above the level of the lambdoid due to abnormally high tentorium)

This article focus on the "classic" presentation of Dandy-Walker malformation, please refer on Dandy-Walker continuum for a discussion on other related posterior fossa malformations.

The term “classic Dandy-Walker malformation” and others like “Dandy-Walker variant” or “Dandy-Walker complex”, were created to differentiate those malformations that do not meet the criteria for Dandy-Walker malformation, however, some authors recommend to avoid them as they have a lack of specificity that may create some confusion. Instead, a more detailed anatomic description is recommended 11

The estimated prevalence of a Dandy-Walker malformation and related variants is about 1 per 30,000 live births and accounts for ~7.5% (range 4-12%) of the cases of infantile hydrocephalus. It is known as the most common posterior fossa malformation 11.

Clinical presentation is dependent on the severity of the abnormality. In a classic Dandy-Walker malformation, patients usually manifest in the first year of life with symptoms of hydrocephalus and associated neurological symptoms. Macrocephaly is the most common manifestation 11 and in ~80% of cases, the diagnosis is made by the first year of life. Despite severe cerebellar abnormalities, cerebellar signs are not common.

Many have a sporadic inheritance with some possibly having an autosomal dominant or X-linked inheritance.

Associations
Ultrasound

Antenatal sonographic features that would suggest the diagnosis include the combination of 9:

  • marked enlargement of the cisterna magna (≥10 mm)
  • complete aplasia of the vermis
  • a trapezoid-shaped gap between the cerebellar hemispheres

Antenatal ultrasound may falsely over diagnose the condition if scanned before 18 weeks due to the vermis not being properly formed before that time.

MRI

MRI is the modality of choice for assessment of Dandy-Walker malformation, although both CT and ultrasound will demonstrate the pertinent features. 

Classically Dandy-Walker malformation consists of the triad of:

  • hypoplasia of the vermis and cephalad rotation of the vermian remnant
  • cystic dilatation of the fourth ventricle extending posteriorly; usually the cerebellar hemispheres are displaced anterolaterally, but with a normal size and morphology 11
  • enlarged posterior fossa with torcular-lambdoid inversion (torcular lying above the level of the lambdoid due to abnormally high tentorium)

In 75-90% of patients, an obstructive hydrocephalus is evident by three months of age 2,11, in many cases due to aqueduct stenosis 10. CSF flow study is recommended to better assess the hydrodynamic changes and identify eventual aqueductal stenosis association, which can not be treated by cystoperitoneal shunt placement 11.

A Dandy-Walker malformation carries a high mortality rate, ~70% in live-born fetuses, often due to associated abnormalities 5. It is thought to carry a poorer prognosis if diagnosed prior to 21 weeks of gestation and better prognosis if diagnosed postnatally 5. A cystoperitoneal shunt could be considered in situations where hydrocephalus is significant problem 7. Even in the absence of any associated syndromes, there is recurrence risk of ~2.5% (range 1-5%) in subsequent pregnancies.

It was initially described by Blackman and Dandy in 1914 4.

The differential is that of other causes of an enlarged CSF retrocerebellar space (and mimics thereof) including:

On antenatal ultrasound, also consider technical and timing factors such as:

  • too steep insonation angle
  • scan performed too early in gestation, i.e. prior to 18 weeks

Malformations of the central nervous system
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Article Information

rID: 4590
Sections: Pathology, Syndromes
Synonyms or Alternate Spellings:
  • Dandy-Walker malformation
  • DWM
  • Classic Dandy Walker malformation
  • Classic DWM
  • Dandy Walker malformation
  • Classic Dandy-Walker malformation
  • Dandy-Walker malformation classic

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