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Dandy-Walker Malformation
Madison Pleasants
NUR 330
Abstract
Dandy-Walker Malformation (DWM) often described as a rare brain abnormalities including the
vermis, cystic dilation of the fourth ventricle and an enlarged posterior fossa can pose as a
serious hazard to a newborn. With a decreased brain size, physical and intellectual delays are
common with an impaired central nervous system. Although DWM was usually present in
fetuses, the symptoms occasionally arise in late childhood and adulthood. Researchers had begun
exploring the genetic inherence and causative factors associated with this disease. The current
treatments set in place were to decrease related injuries and promote infant safety and well-
being. The implications to nursing are vast, including an immense amount of education directed
Dandy-Walker Malformation
Infants who presented with Dandy-Walker Malformation (DWM) had impaired brain
Medicine, 2017). Furthermore, the condition was described as a complete or partial non
developed vermis, cystic dilation of the fourth ventricle and an enlarged posterior fossa (Al-
Turkistani, 2014). These abnormalities decreased the size of the brain immensely and caused an
array of complications (Syndrome, 2016). In many cases of DWM, the newborn was severely
impaired physically and cognitively. The lifespan of one with DWM was dependent on the
disease level of severity and available resources to the infant and caregivers. Hydrocephalus and
related complications are often the cause of death within this patient population. Although,
DWM was typically isolated to the brain other abnormalities can present such as heart defects,
urogenital tract malformations, extra digits, and morphed facial features (U.S. National Library
DWM, 44 died and the three survivors has severe neurologic deficits (2014).
Dandy-Walker mega cisternia, and Dandy-Walker variant (DWV). DWM was the most common
yet most severe form while Dandy-Walker mega cisternia was characterized by excess amounts
of cerebrospinal fluid in the cistern magna (Syndrome, 2016). DWV was the least severe and
most controversial classification. Due to the loose parameters, this diagnosis was often used as
an umbrella category for unsure physicians leading to a debate over the accuracy and reliability
of the prognosis (Parisi & Dobyns, 2003). Other associated disorders included neural tube
This relatively rare disease affected an estimated 1 in 10,000- 30,000 newborns (U.S.
National Library of Medicine, 2017). Common infant signs and symptoms included decreased
hydrocephalus (Syndrome, 2016). Macrocephaly with hydrocephalus was often the most
prominent feature seen in newborns with this rare abnormality. Furthermore, when first
examined, infants with DWM presented with congenital hypotonic and later developed spasticity
(Parisi & Dobyns, 2003). Dandy-Walker Malformation was responsible for 4% of all
hydrocephalus diagnosis (Parisi & Dobyns, 2003). Although most cases of DWM were
diagnosed at birth, 10-20% of patients do not present with signs or symptoms until late childhood
or adulthood. These symptoms are slightly different than that of a newborn; including headaches,
imbalanced gait, paralysis of facial muscles, muscle spasms, and mental or behavioral alterations
Diagnosis
Similar to other medical diagnosis, a multitude of techniques was used to conclude the
believed diagnosis. Due to the fact that the largest portion of the DWM population included
newborns, antepartum testing could have be used. In a study by the scholars journal of medical
case reports, a physician used SLIUH of 20 week and five day growth to determine the fetus had
cephalocele in occipital region, posterior fossa cyst in the fetal brain along with multiple other
abnormalities (Sreelatha, et al., 2014). Postpartum, MRI was the gold standard for DWM
diagnosis. Other examinations such as CT scans, parental neuroradiology and angiography could
further conclude the disease process (Al-Turkistani, 2014). Macrocephaly could not be used as a
diagnostic factor as many other disease processes can present with this sign. The features that
DANDY-WALKER MALFORMATION 5
impacted prognosis was the karyotype and the presence of additional abnormalities (Sreelatha, et
al., 2014).
DWM was typically referred to as an idiopathic disease. There was limited research or
accountability regarding both the genetic implications and causative factors of this disease.
Causative factors included maternal exposure to teratogens such as alcohol and substance abuse
in addition to maternal viral infection. Viral infections most commonly associated with DWM
were rubella, toxoplasma, and cytomegalovirus (Al-Turkistani, 2014). Other studies have shown
that mothers with gestational diabetes was more likely to have a child with DWM or those who
had used Warfarin during pregnancy (U.S. National Library of Medicine, 2017). Researchers
from the Center for Disease Control (CDC) identified other factors common among infants
diagnosed with DWM including black race mother, twinning, and a maternal history of
infertility. Furthermore, the same researchers suggested genetic factors must be involved due to
the lack of environmental factors in some cases of DWM (Center for Disease Control, 2015).
such as trisomys 13, 18, and 21 (Sreelatha, et al., 2014). Other scientists have linked mutations
within a few genes to DWM, although the results were scattered and only accounted for a trivial
number of cases. To continue, due to the isolated brain malformation not related to other
abnormalities, it was difficult to prove a genetic mutation (U.S. National Library of Medicine,
2017).
A majority of DWM cases were sporadic in relation to the inheritance pattern. A few
cases though appeared to run in families with no clear pattern of inheritance or specific mutation
(U.S. National Library of Medicine, 2017). Although, the disease had been described to be
DANDY-WALKER MALFORMATION 6
associated with autosomal recessive genetic disorders, the inconsistency made proving that
genetic aspect difficult (Parisi & Dobyns, 2003). Genetic counseling was often offered to family
Treatment/Management
Treatment for an infant diagnosed with DWM included a multidisciplinary team. Due to
shunts were set in place (Syndrome, 2016). These shunts drained cerebrospinal fluid from the
skull to decrease intracranial pressure thus decreasing the risk of hydrocephalus related fatalities.
Despite the obvious benefits from shunt placement, many risks are associated, specifically the
risk for infection. Infection following a shunt placement was often seen one to three months post-
surgery. The healthcare team was responsible for informing the caregivers of signs and
symptoms of infection such as pallor, lethargy, and high temperatures (Syndrome, 2016).
Furthermore, the healthcare team educated the family on the continued care associated with the
shunt regarding revisions and precautions. Surgery to remove the obstruction of the foramina of
Luschka and Magendia, if applicable, could have also been beneficial to the child (Al-Turkistani,
2014).
Management options for a child with DWM included seizure precautions and an array of
therapies (Syndrome, 2016). Seizure precautions were often taught to parents as it relates to
increased intracranial pressure. The healthcare team often advises the caregivers to use all
resources provided to them including the therapy teams. Beneficial therapies included
occupational and physical therapy, special education, and speech therapy. Occupation and
physical therapy assisted the child with coordination and the physical abnormalities that may
have presented. Special education was reserved for the children who survive the years and were
DANDY-WALKER MALFORMATION 7
well enough to attend school. This therapy allowed the child to have an education program
tailored to his/her mental capacity needs. Lastly, speech therapy could be initiated relating to
both the cognitive and physical impairments that patients usually present with delaying speech
Nursing Implications
directed towards the caregivers of the infant diagnosis with DWM. Education could either begin
after antenatal testing or following birth. The healthcare teams first priority was informing
caregivers of the basic disease knowledge. This basic knowledge included what it is and what it
means for the infant. Later, treatment opinions are discussed. In some cases, termination of the
fetus was discussed. Assuming the infant survives the birthing process, the healthcare team
would act immediately regarding the impending hydrocephalus and potential apnea (Al-
Turkistani, 2014). Further caregiver education included shunt treatment and associated factors.
These factors included revisions, precautions, and infection rates. Due to the related
maintain infant safety and well-being (Syndrome, 2016). Other rehabilitation therapies and
Conclusion
malformation in which the cerebellum was affected. A mutated cerrbellum realted to decrease
brain size impairing cognitive and physical development along with an assortment of other
associated disease. Associated disease included trisomys 13, 18, and 21 along with neural tube
defects. Early diagnosis of the disorder utilized antenatal testing such as SLIUG along with MRI,
DANDY-WALKER MALFORMATION 8
CT scan, and angiography. Once diagnosed, treatment included shunt placement to decrease
intracranial pressure, seizure precautions, rehabilitation therapy, and possible surgery to remove
the obstruction of the foramina of Luschka and Magendia, which is seen in some variations of
DWM (Al-Turkistani, 2014). Although environmental factors can affect the fetus, researchers
believed that genetics held a greater weight within this malformation. Unfortunately, multiple
mutations within an array of genes had been connected to some individual cases of DWM but not
enough to prove a direct genetic link. It was identified that the condition had a familial trait but
once again, the autosomal recessive gene had not been proven in all cases of DWM (Parisi &
Dobyns, 2003). To conclude, although much is known regarding the pathophysiology and
treatment of DWM, genetic counseling for individuals with DWM and his/her family members is
required.
DANDY-WALKER MALFORMATION 9
References
Center for Disease Control. (2015). Key findings: Factors associated with dandy-walker
malformation (DWM), a rare birth defect of the brain. Birth Defects. Retrieved from
https://www.cdc.gov/ncbddd/birthdefects/features/key-findings-dandy-walker.html
Millen, K. J., & Gleeson, J. G. (2008). Cerbellar development and disease. Current Opinion in
Parisi, M. A., & Dobyns, W. B. (2003). Human malformations of the midbrain and hindbrain:
Review and proposed classification scheme. Molecular Genetics and Metabolism, 80, 36-
53. https://doi.org/10.1016/j.ymgme.2003.08.010
Ralph, S. S., & Taylor, C. M. (2014). Nursing diagnosis: Reference manual (9th ed.). Lippincott
Sreelatha, Nayak, V., Sathya, & Hanji, N. (2014). Dandy-walker variant: A case report. Scholars
http://syndrome.org/dandy-walker-syndrome/
Reference.