Dandy-Walker Syndrome

Overview:
Dandy-Walker Syndrome (DWS) is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. A main feature of this syndrome is the partial or even complete absence of the part of the brain located between the two cerebellar hemispheres. DWS is a genetically sporadic disorder that occurs one in every 30,000 live births. It is also associated with Hydrocephalus.

Symptoms:
Dandy-Walker Syndrome (DWS) is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. A main feature of this syndrome is the partial or even complete absence of the part of the brain located between the two cerebellar hemispheres. DWS is a genetically sporadic disorder that occurs one in every 30,000 live births. It is also associated with Hydrocephalus.

slower motor development and progressive enlargement of the skull. increased intracranial pressure also causes symptoms such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns.

Testing/Diagnosis:
Prenatal diagnosis is possible with ultrasound. Because the syndrome is associated with an increased risk for fetal karyotype abnormalities, amniocentesis can be offered after prenatal diagnosis. MRI and CT scans aswell as genetic testing.

Treatment:
Treatment for individuals with Dandy–Walker Syndrome generally consists of a shunt to reduce intracranial pressure, it is placed inside the skull to control swelling. Endoscopic third ventriculostomy is also an option. Treatment may also consist of various therapies such as occupational therapy, physiotherapy, speech therapy or specialized education. Services of a vision teacher may be helpful if the eyes are affected.

Resources:
Www.Dandy-walker.org

Personal Story:
When I was pregnant I had my first ultrasound at 21 weeks, they couldn't determine the sex, and they had to have the doctor come and re-look at the brain. There was a mass of fluid in the back and they told me it was most likely spina bifida and that they couldn't tell me a positive answer unless i went through for more testing. I knew , regardless of what the condition was, God made my child PERFECT in his image & had a true purpose for this and didn't accept further testing & the genetic counselor and doctors recommended an abortion. I don't think I've ever cried so much, they made me feel so horrible and that my child wasn't going to walk or talk, basically not do anything. I decided to change my OB/GYN and get a second opinion at a different hospital and i went to Tufts Medical Center in Boston. There they did an ultrasound and said we see the fluid , and it is what we call a Dandy-Walker Syndrome (DWS). Finally after 3 months of ultrasounds at the previous hospital , I have a name/condition to what they found! They told me basically not to be afraid, it varies WIDELY ! there are some children who suffer greatly and others who have no signs or symptoms other then headaches and nausea. They told me it is basically something we have to take day by day through his life. I delivered my baby at 36 weeks & 4 days, on April 9th 2013 @ 2:53am at Melrose-Wakefield Hospital to a beautiful baby boy my husband and I named, Yael (Ya – as in yacht; el – as in the letter L ) Jeremiah. His name in Israel means, God's Strength. At birth my son was taken to the NICU and 12 hours later was transported to Tufts Medical Center. My son was born with a list of things we would have to follow up with, he had Jaundice, his blood platelet counts kept dropping ( which we found out our bloods platelets are different and i create very rare antibodies that attacked him- NAIT) , he had a Coarctation of Aorta, Hypospadias, He Had A Hemorrhage of the brain and lastly it was certain Yael had DWV. The first few days were so hard, because my son was faced with SO MUCH! it wasn't just this one thing. after 2 weeks, my son was discharged from the NICU & came home. He had an emergency shunt placed on September 9th, 2013 because he also developed hydrocephalus. He is such a miracle and has proven every negative thing against him wrong. he is developmentally on track and he isn't behind at all. its still early and i know my son is still a baby, but doctors told me he wont even talk, walk, they basically considered him brain dead & My son truly showed me , that doctors ARE NOT GOD ! there are still so many unanswered questions when it comes to science & to the brain. We just learned to have hope, don't doubt anything. Have faith even if it is as small as a mustard seed, the possibilities are endless. I'm dedicated to raising awareness for these conditions and start something in the Boston Area, because there isn't anything for DWS & hydrocephalus. I will keep updating on my sons progress, cause i know he is going to go beyond what doctors think! God Bless everyone!

Contributed by MOM Brittany Argueta

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Dandy-Walker Syndrome

Overview: 
Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.

Symptoms: 
The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns.

Dandy-Walker Syndrome is frequently associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.

Tests/Diagnosis: 
Dandy-Walker malformation is best diagnosed with the help of ultrasonography (US) and magnetic resonance imaging (MRI). US may be the initial examination performed because it can be done portably and without sedation, as well as allowing multiplanar imaging.[19, 20] US, however, is limited because it is heavily operator-dependent. Abnormalities such as the gyral, dural, tentorial, and skull anomalies that accompany Dandy-Walker malformations are not clearly depicted by US.
Treatments: Treatment for individuals with Dandy-Walker Syndrome generally consists of treating the associated problems, if needed. A surgical procedure called a shunt may be required to drain off excess fluid within the brain. This will reduce intracranial pressure and help control swelling. Parents of children with Dandy-Walker Syndrome may benefit from genetic counseling if they intend to have more children.

Resources:  

http://www.dandy-walker.org
http://www.hydroassoc.org
http://www.rarediseases.org
http://www.ninds.nih.gov

Will's Story: 

In May of 2011 we were blessed with a healthy baby boy. It wasn’t until he was 4 weeks old that we started having concerns about William’s health. He wasn’t eating enough to gain weight, he was extremely pale, and his eyes were sunk back into his head. It was then that he was diagnosed with failure to thrive and hospitalized.  While in the hospital they performed many tests in an attempt to discover why Will was not growing.   The tests revealed nothing more than a healthy baby boy.  While in the hospital they developed a special high calorie formula to try to get him to gain weight.   After a week his weight was gaining slightly and we were sent home with the high calorie formula and no answer on what was causing the failure to thrive.   A month later he was hospitalized again for not gaining weight.   More tests were run with no answers and we were sent back home again with a high calorie formula and more questions, but no answers.   A month later we back on the same course and back in the hospital.  After another week they could not find anything wrong and sent us back home.

At this point we have been in the hospital three times with no answers.  So at this point we took our Doctors advice and fired them.  Next we found a new pediatrician.   The new doctor was the same as the others because she too did not know what was wrong with Will.   The difference was this doctor took an aggressive approach to my child and began setting up appointments with a series of specialists.   The semi breakthrough took place after the appointment with neurology.   An MRI was run.   The results showed a malformation in the cerebellum know as Dandy-Walker syndrome.   In other words his brain did not develop normally which causes delay in development of motor skills.   It was only a semi breakthrough because the doctor firmly believes that the Dandy-Walker is not the only cause but instead is a symptom of a greater problem.

In September Will had surgery to put in a feeding tube and a Nissan.   Both procedures were a success.  The Nissan has helped with Will’s acid reflux.  And the feeding tube allows us to feed Will small amounts over a large time span.   This has allowed Will to gain weight and continue gaining weight.

The new diagnosis is leaning towards disease of the cilia.   Ciliopathy is a genetic disease in which the cilia of the body do not work correctly.   Unfortunately there is no cure for cilia related diseases.  Only treatment is of the symptoms that appear.

Through Will’s journey I have learned to never give up and always fight for your little miracle.

Contributed by MOM Admin Natalie Albers