Congenital malformations - Edocr

CHAPTER 9 DANDY-WALKER MALFORMATION 69
Figure 9-1. Infant with Walker-Warburg
syndrome, an autosomal recessive disorder
frequently associated with Dandy-Walker malformation.
Note the dressing over the scalp
covering a posterior encephalocele. This infant
also had retinal dysplasia, anterior chamber
anomalies with congenital glaucoma, a cleft
lip and palate, hypotonia, and an elevated
creatine kinase level consistent with congenital
muscular dystrophy.
1. MRI with sagittal and axial views of the
fourth ventricle to confirm the diagnosis,
delineate the anatomy, and detect any associated
CNS anomalies
2. Eye examination
3. Echocardiogram
4. Karyotype if any associated anomalies are
noted
5. Neurosurgical consultation
Figure 9-2. Sagittal MRI scan showing Dandy-
Walker malformation with upward deviation of
the cerebellar vermis and posterior fossa cyst.
In this case, the cerebellar vermis is relatively
well-developed whereas many patients with
Dandy-Walker malformations have significant
cerebellar hypoplasia with only remnants observed
on MRI. (Used with permission from
Alexander G. Bassuk, MD, PhD, Dept. of Pediatrics,
Northwestern University’s Feinberg School of
Medicine.)
MANAGEMENT AND PROGNOSIS
The outcome for infants with the Dandy-Walker
malformation varies widely, largely as a function
of associated malformations and underlying
diagnosis. Overall mortality for patients with
the disorder is in the range of 27% 2 with most
deaths attributable to associated malformations,
uncontrolled hydrocephalus, shunt malfunction
or infection. Sudden death has been reported in
a number of cases and it has been suggested
that this may be due to brain stem ischemia. 4
Many surviving patients are developmentally
delayed and ultimately mentally retarded but
those without associated anomalies clearly appear
to have a better prognosis than those with