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Running head: DANDY-WALKER MALFORMATION 1

Dandy-Walker Malformation

Madison Pleasants

NUR 330

Cedar Crest College


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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

towards the caregivers of the infant diagnosis with DWM.

Keywords: dandy, walker, malformation, brain, hydrocephalus, abnormality


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Dandy-Walker Malformation

Infants who presented with Dandy-Walker Malformation (DWM) had impaired brain

development relating to the underdevelopment of the cerebellum (U.S. National Library of

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

of Medicine, 2017). In a study completed by Sreelatha S et al., of 47 fetuses diagnosed with

DWM, 44 died and the three survivors has severe neurologic deficits (2014).

Within DWM, there are three classifications including Dandy-Walker Malformation,

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

defects, encephaloceles, polycystic kidneys, and chromosomal abnormalities such as trisomys

13, 18, and 21 (Sreelatha, Nayak, Sathya, & Hanji, 2014).


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Incidence and Signs/Symptoms

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

motor development, increased irritability, nausea, vomiting, seizures, nystagmus, and

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

(U.S. National Library of Medicine, 2017).

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
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impacted prognosis was the karyotype and the presence of additional abnormalities (Sreelatha, et

al., 2014).

Causative Factors and Genetic Implications

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).

As previously mentioned, DWM was associated with other chromosomal abnormalities

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
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associated with autosomal recessive genetic disorders, the inconsistency made proving that

genetic aspect difficult (Parisi & Dobyns, 2003). Genetic counseling was often offered to family

members of patients with DWM to further research (Syndrome, 2016).

Treatment/Management

Treatment for an infant diagnosed with DWM included a multidisciplinary team. Due to

the prevalence of hydrocephalus and the associated risks, ventriculoperitoneal or cystoperitoneal

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
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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

and facial motor control (Syndrome, 2016).

Nursing Implications

The implications to nursing are diverse including an immense amount of education

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

complications of hydrocephalus such as convulsions, seizure precautions were set in place to

maintain infant safety and well-being (Syndrome, 2016). Other rehabilitation therapies and

support groups would be presented to family members to utilize.

Conclusion

Dandy-Walker Malformation (DWM) was described by researchers as a rare brain

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,
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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.
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References

Al-Turkistani, H. K. (2014). Dandy-walker malformation. Journal of Taibah University Medical

Sciences, 9(3), 209-212. https://doi.org/10.1016/j.jtumed.2014.01.005

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

Neurobiology, 18, 12-19. https://doi.org/10.1016/j.conb.2008.05.010

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

Williams & Wilkins.

Sreelatha, Nayak, V., Sathya, & Hanji, N. (2014). Dandy-walker variant: A case report. Scholars

Journal of Medical Case Reports, 2(1), 40-41.

Syndrome. (2016). Dandy walker syndrome. Syndrome. Retrieved from

http://syndrome.org/dandy-walker-syndrome/

U.S. National Library of Medicine. (2017). Dandy-Walker malformation. Genetic Home

Reference.

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