• Dandy-Walker malformation (DWM) requires the following diagnostic features: (1) a large

posterior fossa cyst communicating with the fourth ventricle; (2) absence of a portion of the
inferior vermis; (3) hypoplasia, anterior rotation, and upward displacement of the remaining
vermis; (4) absence or flattening of the angle of the fastigium; (5) a large posterior fossa with
torcular elevation; and (6) anterolateral displacement of the cerebellar hemispheres. • Dandy-
Walker variant (DWV) consists of an inferior cerebellar vermian defect and communication
between a normal-sized cisterna magna and fourth ventricle. • Dandy-Walker complex
(DWC) is a term coined to describe a continuum of posterior fossa anomalies categorized
from mild (mega–cisterna magna only) to moderate (mild hypoplasia of vermis, enlarged
fourth ventricle) to severe (agenesis of vermis, dilation of posterior fossa cyst and fourth
ventricle). • DWM results from a dysgenetic development of the roof of the
rhombencephalon at the level of the anterior membranous area. The role of foraminal
obstruction in its pathogenesis is more complex. • Hydrocephalus associated with Dandy-
Walker syndrome (DWS) and the posterior fossa cyst can be surgically treated with
cerebrospinal fluid (CSF) diversion using neuroendoscopy, shunting, or both. • Any
nonneurological diseases or anomalies that coexist with DWS should be detected early in
these patients, given that they play a significant role in the development, prognosis, and
outcomes of these children.

The first autopsy description of such a clinical picture was offered in 1887 by Sutton.1 It was
not until 1914 that Dandy and Blackfan2 realized an association between hydrocephalus and
cystic fourth ventricular dilation in a 13-month old girl. The malformation was further
characterized by Dandy3 in 1921 and by Taggart and Walker4 in 1942 as being related to
congenital atresia of the fourth ventricular exit foramina (Fig. 214.1). However, it was
Benda5 in an autopsy series in 1954 who first used Dandy-Walker syndrome (DWS) to
describe this condition and offered a new theory on its etiology. He postulated that failure of
normal regressive changes in the posterior medullary velum and absence of the cerebellar
vermis leads to cyst formation from the distal end of the fourth ventricle that separates the
cerebellar hemispheres. The rhombencephalon divides into the metencephalon (future pons
and cerebellum) and myelencephalon around the fifth week of gestation. Cerebellar
development begins in the ninth week, when the cerebellar hemispheres develop from the
rhombic lips, subsequently fusing to form the vermis. The choroid plexus of the fourth
ventricle and the foramina of Luschka and Magendie form around the 10th week of gestation
from the rhombic vesicle. Cerebrospinal fluid (CSF) then accumulates within the fourth
ventricle, forming this space. Subsequently, the cerebellar lobules develop in an anteriorto-
posterior direction and are completely formed by week 18.6 Because it develops more slowly
than the cerebral hemispheres, the cerebellum appears smaller at 20 weeks’ gestation relative
to the large posterior fossa CSF spaces, leading to a potential overdiagnosis of vermian
hypoplasia by antenatal ultrasonography.7 In Benda’s pathologic analysis of six cases, it was
concluded that Dandy-Walker malformation (DWM) is directly related to the persistence of
the posterior medullary velum, which remains as a thick arachnoid and ectodermal
membrane.5 The cerebellar vermis is also at least partially absent. Ultimately a cyst forms at
the caudal end of the fourth ventricle, which separates the cerebellar hemispheres. Although
commonly seen, developmental failure of the foramen of Magendie is not necessary for the
development of DWS. In a later study, the embryologic basis for DWM has been attributed to
dysgenetic development of the anterior membranous area of the rhombencephalon.8,9
TERMINOLOGY AND DIFFERENTIAL DIAGNOSIS DWM has been described by
Spennato and colleagues8 and Klein and associates10 as requiring six radiographic features
necessary for diagnosis: (1) a large posterior fossa cyst communicating with the fourth
ventricle; (2) absence of a portion of the inferior vermis; (3) hypoplasia, anterior rotation, and
upward displacement of the remaining vermis; (4) absence or flattening of the angle of the
fastigium; (5) a large posterior fossa with torcular elevation; and (6) anterolateral
displacement of the cerebellar hemispheres.8,10 Closely related, Dandy-Walker variant
(DWV) is a term that was first introduced by HarwoodNash and Fitz to describe a milder
spectrum of DWS-like signs that were not congruent with the classic definition, but a clear
clinical separation has not been defined. DWV consists of an inferior cerebellar vermian
defect and communication between a normal-sized cisterna magna and fourth ventricle.7
DandyWalker complex (DWC) is another term coined to describe a continuum of posterior
fossa anomalies categorized from mild (mega–cisterna magna only) to moderate (mild
hypoplasia of vermis, enlarged fourth ventricle) to severe (agenesis of vermis, dilation of
posterior fossa cyst and fourth ventricle).11 This wide spectrum of posterior fossa cystic
malformations provides a basis for differential diagnosis in prenatal or postnatal
presentations. These include DWV, mega–cisterna magna, posterior fossa arachnoid cyst,
persistent Blake pouch cyst, fourth ventriculocele, and congenital vermian hypoplasia (Fig.
214.2).
Figure 214.1. (A and B) Dandy and Blackfan’s original illustrations of Dandy-Walker
syndrome. III, Third ventricle; IV, posterior fossa cyst; Lat. vent., lateral ventricle. (From
Dandy WE, Blackfan KD. Internal hydrocephalus: an experimental, clinical and pathological
study. Am J Dis Child. 1914;8:406.)

Figure 214.2. Conditions to be distinguished from Dandy-Walker syndrome. (A) Axial T1-
weighted MR image showing Dandy-Walker variant with a fourth ventricle communicating
with a retrocerebellar cyst (white arrow), absence of the inferior vermis, absence of the
corpus callosum (black arrow), and lissencephaly. (B) Cerebellar vermis hypoplasia/atrophy.
Note the normal size of the posterior fossa and absence of the hydrocephalus. (C)
Retrocerebellar cyst with anterior shift of cerebellum, which has resulted in obstruction of
cerebrospinal fluid (CSF) outflow and hydrocephalus. (D) Mega–cisterna magna. Note
enlarged size of the posterior fossa but normal size of the cerebellum. (E) Blake pouch cyst.
Note CSF collection in the fourth ventricle that is contiguous (arrow) with a collection
inferior to the cerebellum (asterisk). Small arrowheads show upward mass effect from fluid.

In none of these conditions is the fourth ventricle significantly enlarged or upwardly rotated.
(A, From Faerber EN. Congenital abnormalities. In: Slovis TL, Coley BD, Bulas DI, et al,
eds. Caffey’s Pediatric Diagnostic Imaging. 11th ed. Philadelphia: Mosby; 2007. B–E, From
Gleeson JG, Dobyns WB, Plawner L, et al. Congenital structural defects.
CLINICAL FEATURES

Dandy-Walker syndrome has been reported to occur in 1 of 25,000 to 30,000 newborns,15

with the majority of cases presenting in the first year; in most in whom hydrocephalus
develops, it has done so by 3 months.15-18 However, diagnosis may be delayed until
adolescence or even adulthood in less severe cases. Concurrent hydrocephalus may not be
present at prenatal imaging or at birth but has been reported to occur in roughly 80% of all
patients with DWS (2%–90%).17,19-23 The higher end of this wide range is probably
secondary to historical series of patients, with clinical hydrocephalus being the selected
subgroup presenting to neurosurgical services. In one retrospective study of 72 children with
DWM, 50% presented before 1 year of age (range, 0–18 years), whereas the oldest reported
newly diagnosed patient was 75 years old.24 The most common postnatal presentation is
macrocrania. Other signs and symptoms in this age group include the sunset sign, a large
posterior fossa, seizures, spasticity, lethargy, delayed milestones, respiratory failure, apnea,
deafness, visual problems, increased intracranial pressure, and hydrocephalus. Older children
and adults may present like patients with posterior fossa tumors: symptoms may include
headache, vomiting, cranial nerve palsies, nystagmus, and ataxia.25,26 Numerous
malformations are described in the literature in association with DWS and its variants. The
incidence of associated anomalies in the CNS is variable but has been reported as high as
68%, with systemic abnormalities present in about one fourth of patients.27 The most
commonly associated CNS abnormality is agenesis of corpus callosum; of the systemic
abnormalities, capillary hemangiomas and cardiac defects are most frequently seen (Box
214.1).28 Historically, the only imaging characteristic consistent with DWS has been an
elevated torcular Herophili visible on plain radiograph, known as the Bucy sign.29 Currently,
diagnosis of DWS is made on the basis of anatomic findings that may be identified with fetal
or postnatal ultrasonography or MRI as well as CT,13 with MRI representing the “gold
standard” (Fig. 214.3). CSF dynamics are increasingly being used with flow studies and cine
MRI sequences, which can often determine the etiology of hydrocephalus.30 Some
authorities have cautioned that in the evaluation of prenatal imaging, ultrasound diagnosis
may potentially be discordant with postnatal imaging or postmortem pathologic
findings.5,21-33 Fetal MRI has been used
as a helpful adjunct in diagnosing this condition prenatally, given the potential for associated
congenital abnormalities and the high incidence of cognitive and developmental delays, but it
is insufficient for anatomic analysis of the vermis.34 Because some parents may elect to
terminate DWS pregnancies, it is vital that an accurate prenatal diagnosis be reached with
advanced MRI imaging, characterization of associated anomalies, and cytogenetic evaluation.
Chromosomal aberrations occur in about 50% of cases, with trisomy 13, trisomy 18, and
triploidy, PHACE syndrome, and Joubert syndrome being the most common.4,35 Inheritance
patterns may be X-linked or autosomal recessive as reported in rare familial occurrences. If
DWS is associated with a single inherited gene disorder, recurrence risk may be high for
subsequent pregnancies. However, this risk is typically thought to be 1% to 10% in sporadic
cases.8,35 Cytogenetic studies have revealed at least three major DWM-associated loci,
implicating deletions or duplications of FOXC1 on chromosome 6p2536 and heterozygous
deletions of the ZIC1/ZIC4 complex on chromosome 3q24.37 The latter association has been
linked with DWM via both sonic hedgehog (Shh)–dependent and Shhindependent
mechanisms (the Shh pathway is crucial to normal cerebellar development).38
Characterization of other cytogenetic abnormalities is ongoing, but DWM is clearly a
disorder of genetic heterogeneity.9 In a study by Reeder et al.39 examining the potential role
of nongenetic potentially modifiable risk factors, DWM was associated with maternal non-
Hispanic black race/ethnicity and a history of infertility treatment. In addition, babies with
DWM were more likely to be born preterm, with low birth weight, and to be twins.39
TREATMENT Treatment options for DWS currently consist of cyst membrane excision,
shunting, and neuroendoscopic intervention. In early series, on the basis of the belief that
hydrocephalus in DWS was due to obstruction of the foramina of Luschka and Magendie,
surgical treatment involved excision of the posterior fossa membranes to facilitate spinal fluid
flow.3 Although there were reports of good outcomes with cyst membrane excision, its poor
efficacy was subsequently demonstrated in multiple series, with up to 75% of patients still
requiring a shunt and mortality approaching 10%.4,16,40 This situation brought about
subsequent attempts at various shunting techniques, initially with concurrent resection of
posterior fossa membranes and later without. Currently, although largely abandoned as an
initial procedure, resection or fenestration of obstructing membranes may rarely play a role in
the treatment of DWS, particularly in older children or after multiple shunt failures.41
Currently, diversion of CSF through shunting is the most widely accepted first-line treatment
of DWS (Fig. 214.4; also see Chapter 44, Videos 44.2, 44.3, and 44.4). However, significant
controversy exists in terms of which shunting procedure yields the best results. Options
include (1) shunting the supratentorial compartment, (2) shunting the cerebellar cyst, and (3)
shunting both compartments (dual shunt). In their respective studies, Sawaya and
colleagues16 and Hirsch and coworkers17 suggested that shunting the cyst alone might be the
primary treatment of choice. A greater proportion of their patients with a ventriculoperitoneal
shunt (VPS) subsequently required cyst drainage than of those in whom a cystoperitoneal
shunt (CPS) was the initial procedure. Asai and colleagues42 suggested that the success of
CPS depends on the initial patency of the aqueduct and therefore that the identification of
aqueductal stenosis may determine which procedure should be performed first. Bindal and
coworkers43 found no statistical difference between the two shunt methods and therefore
recommended VPS to be the initial procedure of choice because of its lower rate of
morbidity.43 These investigators also found that irrespective of the initial choice of shunt,
38% of patients subsequently required shunting of the second compartment. A VPS may be
easier to place, has relatively lower incidences of migration or malposition and CSF leak, and
can provide early decompression of ventriculomegaly to potentially allow for satisfactory
cognitive development. As a result, many writers have advocated this approach.40 However,
upward herniation with hypothalamic dysfunction and functional aqueductal stenosis
resulting in an isolated fourth ventricle has been reported with supratentorial shunting.44,45
In their series Osenbach and Menezes19 achieved a 92% success rate with “dual” shunting of
the posterior fossa cyst and lateral ventricle. Although pressures across the supratentorial and
infratentorial compartments are equalized, such a setup may also result in significantly
decreased flow across the aqueduct, thus causing stenosis. Mohanty and colleagues22
extensively reviewed changing trends in the treatment protocols of DWS, from cystectomy to
various shunting procedures and finally to endoscopic fenestration, in a single institution
between 1986 and 2002. Radiographically, ventricular size reduction was achieved in

88% of patients with VPS placement, compared with 38% of those with CPS placement. On
the other hand, cyst size was significantly smaller in 88% of patients with CPS, compared
with 62% of those with VPS. These researchers reported no significant difference in
intellectual outcome between different treatments. Endoscopic procedures in 21 patients
achieved a slight reduction in ventricular size in all cases with a varying degree of cyst size
reduction.22 These interventions consisted of (1) endoscopic third ventriculostomy (ETV),
(2) an aqueductal “stent” with shunting, and (3) endoscopic-assisted transtentorial proximal
catheter placement with shunting. ETV alone was performed in 16 patients when the
aqueduct was noted to be patent, whereas aqueductal stents or fenestrations were combined
with ETV in patients with aqueductal stenosis (five patients). Mohanty and colleagues22
described a 24% endoscopic procedure failure rate, which is concordant with the failure rate
of ETV in the treatment of obstructive hydrocephalus. They argued that, on the basis of their
experience, a generous residual ventriculomegaly may prevent secondary aqueductal stenosis
and that an endoscopic procedure may be an acceptable primary intervention for DWS.22 A
later series of 45 patients treated with ETV plus choroid plexus cauterization for
hydrocephalus due to DWM, DWV, or mega–cisterna magna showed a 74% success rate,
defined as avoiding further interventions.46 The investigators suggested that surgeons
consider endoscopic management of hydrocephalus as a primary treatment for patients with
these conditions to avoid shunt dependence. From current retrospective evidence, it would be
difficult to establish a universal treatment algorithm for DWS. A current trend is to determine
the most appropriate treatment on the basis of CSF dynamics, often via MRI and cine MRI, to
assess aqueductal flow.8 Most authorities recommend starting with the safest and most
effective treatment, which is usually a VPS for an infant younger than 1 year with progressive
hydrocephalus. Endoscopic treatment in this age group remains controversial, but some
writers have reported successful ETV in patients as young as 6 months.22,46,47 The cyst is
usually treated secondarily by fenestration or shunting, with excision of posterior fossa
membranes being reserved for refractory cases.17,48 The initial shunt system may be
converted to a dual system in cases of failure. With the presence of aqueductal stenosis, a
combined procedure of ETV and aqueductal stenting49 or a dual shunt23 may be considered
as first-line treatment. In addition, certain other unique situations may warrant a more
individualized approach to treatment, such as the presence of an occipital meningocele.
Irrespective of treatment modality, the primary goal is to maximize functional patient
survival while limiting morbidity and mortality. PROGNOSIS Patients with DWS have a
highly variable prognosis owing to the spectrum of severity and the variety of associated
conditions, such as cardiovascular, neurocutaneous, and mental health conditions.40 The
mortality rate has significantly decreased since the condition was first recognized, with
mortality rates of 100% in 1942 decreasing to approximately 10% or less with treatment in
later studies.4,17,42,43 This improvement is likely due to advances in medical and surgical
care and improved management of hydrocephalus. Currently, death usually occurs secondary
to shunt malfunction or shunt-associated morbidity and associated systemic anomalies.
Despite this improvement, mortality rates may be quite variable for the antenatal diagnosis of
DWS. Prenatal studies diagnosing DWS or DWV have confirmed a high incidence of
associated anomalies, with only about 6% to 20% of fetuses surviving to birth.11,50 These
diagnostic techniques, chiefly ultrasonography and MRI, in combination with cytogenetic
characterization of DWS, may allow for better prognostication for patients with this condition
in the future.51 In children who have successfully been treated for hydrocephalus, the
prognosis mainly depends on the presence of associated conditions. Seizures, hearing or
visual problems, and other systemic or CNS abnormalities are predictive of worse
outcome.43 In patients without other abnormalities, some authorities have reported IQs of 80
or more in 50% of long-term survivors, with normal IQs in 30%.43,51,52 In a systematic
review, only 6.4% of DWS patients had mild or severe intellectual disability.35 In a study by
Boddaert and associates, 14 patients with normal IQs had normal vermian lobulation without
supratentorial anomalies as demonstrated by MRI.53 In contrast, the remaining,
developmentally delayed patients with DWS had abnormalities in the vermis or the
supratentorial compartment. The investigators concluded that vermian lobulation may be a
useful prognostic factor of functional development.

CONCLUSION

DWS is a relatively uncommon cause of hydrocephalus and may be accompanied by multiple

congenital CNS and other systemic abnormalities. Although commonly treated by
neurosurgeons for associated hydrocephalus, the malformation has variable severity and
carries no pathognomonic clinical syndrome. It is diagnosed radiographically, prenatally or
postnatally, by means of ultrasonography, CT, or, most commonly MRI. Hydrocephalus and
the posterior fossa cyst can be surgically treated with neuroendoscopy, shunting procedures,
or both. Treatment has improved significantly since the original description; however,
prognosis mostly depends on associated anomalies.
Figure 214.3. Diagnosis of Dandy-Walker syndrome (DWS). (A) Prenatal T2-weighted
sagittal MR image demonstrating typical findings associated with DWS in a fetus. (B) Artist
rendition of the sagittal image. Note the small, abnormally rotated vermis (white arrow), large
posterior fossa cyst (black arrow), and lack of hydrocephalus. (C) Companion postnatal T2-
weighted sagittal MR image demonstrating similar findings. In addition, note the high-riding
confluence of sinuses, expanded posterior fossa, and hydrocephalus

Figure 214.4. Surgical treatment of Dandy-Walker syndrome. (A) Axial CT scan

demonstrating a large posterior fossa cyst with enlargement of the temporal horns bilaterally.
A catheter can be seen within the cyst that is draining cerebrospinal fluid through a cyst-
peritoneal shunt. (B) Axial CT scan showing a ventricular catheter placed within the right
lateral ventricle that is decompressing the supratentorial compartment. (C) CT scout sagittal
scan demonstrating a combined ventricular-cystoperitoneal shunt system