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Terminology
This article focuses on the "classic" presentation of Dandy-Walker malformation, please
refer to 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.
Epidemiology
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
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.
Pathology
Many have a sporadic inheritance with some possibly having an autosomal dominant or
X-linked inheritance.
Associations
i
non-syndromic CNS: in ~70% of cases other CNS abnormalities are
present, including 2
o cortical dysplasia, polymicrogyria, or subependymal grey matter
heterotopia
o dysgenesis of the corpus callosum
o lipoma of the corpus callosum
o holoprosencephaly
o schizencephaly
o occipital encephalocele: less than 5% 2
o lumbosacral meningocele
o syringomyelia
non-syndromic non-CNS: found in ~25% of patients 2
o cleft palate
o facial angiomas
o low-set ears
o polydactyly or syndactyly
o cardiac anomalies 5
syndromic non-aneuploidic associations
o Aicardi syndrome
o Coffin-Siris syndrome
o Cornelia de Lange syndrome
o Fryns syndrome
o hydrolethalus syndrome
o Klippel-Feil syndrome
o Meckel-Gruber syndrome
o Smith-Lemli-Opitz syndrome 7
o Walker-Warburg syndrome
aneuploidic associations
o trisomy 18
o trisomy 13
o triploidy
Radiographic features
Ultrasound
Antenatal sonographic features that would suggest the diagnosis include the combination
of 9:
Antenatal ultrasound may falsely overdiagnose the condition if scanned before 18 weeks
due to the vermis not being properly formed before that time.
MRI
ii
MRI is the modality of choice for assessment of Dandy-Walker malformation, although
both CT and ultrasound will demonstrate the pertinent features.
Differential diagnosis
The differential is that of other causes of an enlarged CSF retrocerebellar space (and
mimics thereof) including:
megacisterna magna
epidermoid cyst
arachnoid cyst
Blake pouch cyst
Joubert anomaly (vermian hypoplasia)
isolated fourth ventricle
On antenatal ultrasound, also consider technical and timing factors such as:
iii