What is Syringomyelia?

Before MJ’s MRI discovery in January Dan and I had never heard of Chiari Malformation or Syringomyelia – let alone have any idea what it was. So to understand our journey I thought it best to share some information with you that we had a crash course in when our son’s condition was discovered and surgery was scheduled within 4 weeks.

MJ has been diagnosed with 2 new neurological conditions (Autism being his first neurological diagnosis in September 2012). The first new one he was diagnosed with Chiari Malformation after an MRI on January 11, 2013.

MJ’s second new (and 3^rd total) neurological condition is Syringomyelia – diagnosed on 2/7/2013. His brain surgery was performed to alleviate some of the symptoms and possible complications due to both of these diagnosis.

What is Syringomyelia?

Syringomyelia is damage to the spinal cord due to the formation of a fluid-filled area (called a syrinx) within the cord.

The central nervous system is made up of the brain and spinal cord. The brain functions to receive nerve impulses from the spinal cord and cranial nerves. The spinal cord contains the nerves that carry messages between the brain and the body. Spinal cord injury can occur when there is damage to the cells within the spinal cord or when the tracts of nerves that run up and down the spinal cord are severed. Also known as: Syrinx

• MJ has a syrinx on his spine from T4 to T9 as well as fluid from T9 to L1



Picture from Scripps Health San Diego

 

 


Picture from Chiari Institute

 

Causes

In MJ’s case the fluid buildup seen in syringomyelia is a result of a birth defect (specifically, "chiari malformation," in which part of the brain pushes down onto the spinal cord at the base of the skull).

The fluid-filled cavity usually begins in the neck area. It expands slowly, putting pressure on the spinal cord and slowly causing damage.

What are the symptoms? 

• Gradual loss of muscle mass (wasting, atrophy) – MJ was diagnosed in 2012 with low muscle tone.
• Headache
• Muscle function loss, loss of ability to use arms or legs
• Numbness or decreased sensation – MJ had periodic numbness and pain in his feet.
• Decreased sense of pain or temperature
• Lessened ability to sense that the skin is being touched
• Neck, shoulders, upper arms, trunk -- in a cape-like pattern
• Slowly, but progressively, gets worse
• Pain down the arms, neck, or into the upper back – MJ has/had neck pain and back pain
• Weakness (decreased muscle strength, independent of exercise) in the arms or legs – MJ has this
• Uncoordinated movement – MJ has/had this

Treatment

The goals of treatment are to stop the spinal cord damage from getting worse and to maximize functioning. Surgery to relieve pressure in the spinal cord may be appropriate. Physical therapy may be needed to maximize muscular function.

MJ had a Chiari Decompression surgery to return flow of spinal fluid and slow progression of the Syringomyelia.

Possible complications

Without treatment, the condition will lead to:

• Continued or progressive loss of neurologic function
• Permanent disability including paralysis 

Prognosis

Untreated, the disorder gets worse very slowly, but it eventually causes severe disability. Surgical Chiari decompression usually stops the progression of the disorder, with about 50% of people showing significant improvement in neurologic function after surgical decompression.

As with the Chiari - surgery does not take away MJ’s Syringomyelia – It simply alleviates some of the brain compression and slows the progression of permanent neurological damage.

We will need to continue monitoring MJ’s condition to ensure his syrinx does not continue to grow.

MJ will have increase risks of brain and spinal cord injuries and possible symptoms that may make daily life more difficult.

**Information used from the following sources:

Chiari Institute, Scripps Health San Diego

What is Chiari?

Before MJ’s MRI discovery in January Dan and I had never heard of Chiari Malformation – let alone have any idea what it was. So to understand our journey I thought it best to share some information with you that we had a crash course in when our son’s condition was discovered and surgery was scheduled within 4 weeks.

MJ has been diagnosed with 2 new neurological conditions (Autism being his first neurological diagnosis in September 2012). The first one he was diagnosed with Chiari Malformation after an MRI on January 11, 2013. His brain surgery was performed to alleviate some of the symptoms and possible complications due to this diagnosis.

What is Chiari Malformation exactly?

Chiari Malformation (kee-AR-ee) (CM) - is a serious neurological disorder where the bottom of the brain (cerebellum) is crowded in the skull cavity, and forces the lower tips of the cerebellar hemi-spheres (tonsils) into the hole in the bottom of the skull (foramen magnum). This causes blockage of cerebrospinal fluid (CSF) flow from the cranial cavity into the spinal canal.

• MJ has CM1 (Chiari Malformation Type 1) which is congenital (he was born with it)
• MJ has a Small Posterior Fossa - Back of the skull is too small for the normal sized brain.



Photo from Chiari Institute

What are the symptoms?

• Severe headache in the back of the head brought on by straining, coughing, etc.
• Sleep apnea
• Trouble Swallowing (MJ has this)
• Balance and Coordination issues (MJ has/had this)

Symptoms are due to compression of brain and spinal tissue, disruption of the natural flow cerebrospinal fluid, and increased pressure in the brain. It is not known why, but symptoms can develop at any age and some people with malformations are asymptomatic, meaning they have no symptoms.

 Treatment

• Pain/Symptom Relief - Depending on the severity of symptoms sometimes treatment can be symptom relief such as therapies or pain medications while watching to ensure the condition does not worsen.
• Surgery - In MJ’s case his condition required surgery due to the complete blockage of flow of spinal fluid causing an additional neurological condition called Syringomyelia.

 MJ’s brain surgery performed on February 28, 2013 consisted of the following:

• Craniectomy- A piece of the skull is removed
• Laminectomy- Part of one or more vertebrae are removed (Mj had this on the C1 vertebrae
• Duraplasty- The covering of the brain is opened and a patch is sewn in to make it bigger
• Tissue removal- Cerebellar tonsils are cauterized (part of the brain tissue that is “dead” due to compression)

 


Diagrams from Mayfield Chiari Center

 Possible complications

• Growth spurts can cause new crowding of his brain depending on the rate of his skull growth vs. brain growth.
• It is not uncommon for the skull bone that was surgically removed to grow back (often during a growth spurt).
• Scar tissue can build up around the surgical areas and cause new/additional blockage of CSF (cerebral spinal fluid).

Prognosis

Surgery does not take away MJ’s Chiari – It simply alleviates some of the brain compression and slows the progression of permanent neurological damage.

Chiari presents itself and can be a risk throughout childhood growth spurts. MJ’s surgeon advises we will need to be aware of MJ’s condition and any changes at growth spurts from 5-8 yrs, 10-12 yrs, and 15-18 yrs.

MJ will have increase risks of brain and spinal cord injuries and possible symptoms that may make daily life more difficult.

 

 

**Information used from the following sources:

Chiari Institute, Mayfield Chiari Center, www.conquerchiari.org, and www.csfinfo.org

 

90 days

Today MJ went for his 90 day post-op MRI. The first two scans he had in January there were so many unknowns. Part of me feels those were easier because we didn’t know what (if anything) would be found and we had a sense of hope that there would be nothing. Now it is worse knowing there is something damaging your child’s body and praying it has somehow improved. This is his third scan and it was a tough one for all of us - he is getting weary of it. He hates the tape they put on him for I.V.’s and bandages; he can’t stand the smells. He no longer gets “excited” about going to his “hospital with the hand on it”. How can I blame him? Like his father and me, I am sure it brought back a flood of emotions walking those halls in that hospital again today.

The scan today was tough for so many reasons. We no longer were the family in the waiting room with the hope that nothing would be found. We know what’s in there. We know what it has done and what it could keep doing to him. We know this is a chronic condition that he will live with, and will need to be monitored. The reality of that really settled in today. MJ’s brain surgery in February was just the beginning of his Chiari and Syringomyelia journey.

As we were discussing tomorrow’s schedule with MJ (our nightly routine) and we told him we are going back to the surgeon tomorrow for a checkup and to see his pictures – he got tears in his eyes and his little lip quivered. “Mommy – can I stop getting the pictures and going there? I don’t like that.” Seeing that lip quiver and tears well up just killed me inside.

Tomorrow will be the next steps of our journey. Results that will tell us how successful MJ’s surgery was and how closely we will need to monitor his condition going forward.

Thanks for sticking with us through this continued journey.