Saturday, March 12, 2011
Thursday, March 3, 2011
Rib pushing on her lung
Chiari malformation
Arnold–Chiari malformation
From Wikipedia, the free encyclopedia
| Arnold-Chiari | |
|---|---|
| Classification and external resources | |
 A T1-weighted sagittal MRI scan, from a patient with an Arnold-Chiari malformation, demonstrating tonsillar herniation of 7mm | |
| ICD-10 | Q07.0 |
| ICD-9 | 741.0 |
| OMIM | 207950 |
| DiseasesDB | 899 |
| MeSH | D001139 |
Contents[hide] |
[edit] Classification
The Austrian pathologist Hans Chiari in the late 19th century described seemingly related anomalies of the hindbrain, the so called Chiari malformations I, II and III. Later, other investigators added a fourth (Chiari IV) malformation. The scale of severity is rated I - IV, with IV being the most severe. Types III and IV are very rare.[4]| Type | Presentation | Other notes |
|---|---|---|
| I | A congenital malformation. Is generally asymptomatic during childhood, but often manifests with headaches and cerebellar symptoms. Herniation of cerebellar tonsils.[5][6] | The most common form. |
| Syndrome of occipitoatlantoaxial hypermobility | An acquired Chiari I Malformation in patients with hereditary disorders of connective tissue.[7] Patients who exhibit extreme joint hypermobility and connective tissue weakness as a result of Ehlers-Danlos syndrome or Marfan Syndrome are susceptible to instabilities of the craniocervical junction and thus acquiring a Chiari Malformation. This type is difficult to diagnose and treat.[8] | |
| II | Usually accompanied by a lumbar myelomeningocele[9] leading to partial or complete paralysis below the spinal defect. As opposed to the less pronounced tonsillar herniation seen with Chiari I, there is a larger cerebellar vermian displacement. Low lying torcular herophili, tectal beaking, and hydrocephalus with consequent clival hypoplasia are classic anatomic associations.[10] The position of the torcular herophili is important for distinction from Dandy-Walker syndrome in which it is classically upturned. This is important because the hypoplastic cerebellum of Dandy-Walker may be difficult to distinguish from a Chiari malformation that has herniated or is ectopic on imaging. Colpocephaly may be seen due to the associated neural tube defect. | |
| III | Causes severe neurological defects. It is associated with an occipital encephalocele.[11] | |
| IV | Characterized by a lack of cerebellar development.[12] |
Chiari malformation is the most frequently used term for these types of malformations. The use of the term Arnold–Chiari malformation has fallen somewhat out of favor over time, although it is used to refer to the type II malformation. Current sources use "Chiari malformation" to describe four specific types of the condition, reserving the term "Arnold-Chiari" for type II only.[14] Some sources still use "Arnold-Chiari" for all four types.[15] This article uses the latter convention.
Chiari malformation or Arnold–Chiari malformation should not be confused with Budd-Chiari syndrome,[16] a hepatic condition also named for Hans Chiari.
[edit] Symptoms
- Headaches aggravated by Valsalva maneuvers, such as yawning, laughing, crying, coughing, sneezing or straining[17]
- Tinnitus (ringing in the ears)
- Dizziness and vertigo
- Nausea
- Nystagmus (irregular eye movements)
- Facial pain
- Muscle weakness
- Impaired gag reflex
- Restless Leg Syndrome
- Sleep Apnea
- Dysphagia (difficulty swallowing)[18]
- Impaired coordination
- Dysautonomia: tachycardia (rapid heart), syncope (fainting), polydipsia (extreme thirst), chronic fatigue [19]
[edit] Diagnosis
Diagnosis is made through a combination of patient history, neurological examination, and Magnetic Resonance Imaging (MRI). The radiographic criteria for diagnosing a congenital Chiari I Malformation is a downward herniation of the cerebellar tonsils greater than 5 mm below the foramen magnum. Other imaging techniques involve the use of 3-D CT imaging of the brain and cine imaging (a movie of the brain) can be used to determine if the brainstem is being compressed by the pulsating arteries that surround it.[21]In the Syndrome of Occipitoatlantoaxial Hypermobility, cerebellar tonsillar herniation is typically only evident on an up-right MRI, due to the fact that the Chiari Malformation is gravitationally acquired by means of connective tissue weakness.[7] 3-D CT imaging may aid in the diagnosis of related disorders such as retroflexed odontoid. Invasive cranial traction (lifting of the head off the spine) is often used as a confirmation of the diagnosis.[22]
The diagnosis of a Chiari II Malformation can be made prenatally through Ultrasound.[23]
[edit] Treatment
Once symptomatic onset occurs, a common treatment is decompression surgery,[24] in which a neurosurgeon usually removes the lamina of the first and sometimes the second or even third cervical vertebrae and part of the occipital bone of the skull to relieve pressure. The flow of spinal fluid may be accompanied by a shunt. Since this surgery usually involves the opening of the dura mater and the expansion of the space beneath, a dural graft is usually applied to cover the expanded posterior fossa.A small number of neurological surgeons believe that detethering the spinal cord as an alternate approach relieves the compression of the brain against the skull opening (foramen magnum), obviating the need for decompression surgery and associated trauma. However, this approach is significantly less documented in the medical literature, with reports on only a handful of patients. It should be noted that the alternative spinal surgery is also not without risk.[citation needed]
On April 24, 2009, a young patient with Type 1 Chiari malformation was successfully treated with a minimally invasive endoscopic transnasal procedure by Dr. Richard Anderson at the Columbia University Medical Center Department of Neurosurgery.[25]
[edit] Prognosis
The prognosis differs dependent on the type of malformation (i.e., type I, II, III, or IV). Type I is generally adult-onset and, while not curable, treatable and rarely fatal.[26] Syndrome of Occipitoatlantoaxial Hypermobility (Ehlers-Danlos syndrome related) is more difficult to treat than the congenital form of the disease. Individuals with this type do not respond well to the decompression surgery and often require an occipitoatlantoaxial fusion for stability.[7] These patients are at risk of experiencing serious heart complications.[27] Types I and II sufferers may also develop syringomyelia. Type II is typically diagnosed at birth or prenatally.[28] Approximately 33% of individuals with Chiari II malformation develop symptoms of brainstem damage within five years; a 1996 study found a mortality rate of 33% or more among symptomatic patients, with death frequently occurring due to respiratory failure.[29] 15% of individuals with Chiari II malformation die within two years of birth.[30] Among children under two who also have myelomeningocele, it is the leading cause of death.[31] Prognosis among children with Chiari II malformation who do not have spina bifida is linked to specific symptoms; the condition may be fatal among symptomatic children when it leads to neurological deterioration, but surgical intervention has shown promise.[32] Types III and IV are extremely rare and patients generally do not survive past the age of two or three.[33][edit] Epidemiology
The prevalence of Chiari 1 malformation, defined as tonsilar herniations of 3 to 5 mm or greater, is estimated to be in the range of one per 1000 to one per 5000 individuals.[7] The incidence of symptomatic Chiari is less but unknown.Syringomyelia
Syringomyelia (pronounced /sɪˌrɪŋɡɵmaɪˈiːliə/) is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord. This cyst, called a syrinx, can expand and elongate over time, destroying the spinal cord. The damage may result in pain, paralysis, weakness,[1] and stiffness in the back, shoulders, and extremities. Syringomyelia may also cause a loss of the ability to feel extremes of hot or cold, especially in the hands. The disorder generally leads to a cape-like loss of pain and temperature sensation along the back and arms. Each patient experiences a different combination of symptoms. These symptoms typically vary depending on the extent and, often more critically, to the location of the syrinx within the spinal cord.
Syringomyelia has a prevalence estimated at 8.4 cases per 100,000 people,[2] with symptoms usually beginning in young adulthood. Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing, straining, or myelopathy.
Pathogenesis
Cerebrospinal fluid normally flows in a pulsatile manner throughout the subarachnoid space which envelops the spinal cord and brain, transporting nutrients and waste products. The cerebrospinal fluid also serves to cushion the brain. Excess cerebrospinal fluid in the central canal of the spinal cord is called hydromyelia. This term refers to increased cerebrospinal fluid that is contained within the ependyma of the central canal. When fluid dissects into the surrounding white matter forming a cystic cavity or syrinx, the term syringomyelia is applied. As these conditions coexist in the majority of cases, the term syringohydromyelia is applied. However, most physicians use the terms interchangeably.The pulsatile movement of the cerebrospinal fluid within the subarachnoid space is a result of the phase difference in influx and outflow of blood within the cranial vault. The total fluid pulsation per cardiac cycle is approximately 1 cc in a healthy adult. Since the brain is contained within the nearly rigid cranial cavity, the cerebrospinal fluid pulsation moves into the more compliant spinal canal having nearly zero net flow during each cardiac cycle.
It has been observed that obstruction of the cerebrospinal fluid pulsation in the subarachnoid space can result in syrinx formation. A number of pathological conditions can cause an obstruction of the normal cerebrospinal fluid pulsation. These include Chiari malformation, spinal arachnoiditis, scoliosis, spinal vertebrae misalignment, spinal tumors, spina bifida, and others. The reasons that blockage of the cerebrospinal fluid pulsation within the subarachnoid space can result in syrinx formation are not known. Moreover, it is unclear if syrinx fluid originates from bulk movement of cerebrospinal fluid into the spinal cord, from bulk transmural movement of blood fluids through the spinal vasculature into the syrinx, or from a combination of both. Once a syrinx has formed, pressure differences along the spine have been proposed to be one mechanism causing fluid movement within the cyst, possibly resulting in damage to the spinal cord.
Congenital
The first major form relates to an abnormality of the brain called an Chiari malformation, named after the physician who first characterized it. This is the most common cause of syringomyelia, where the anatomic abnormality causes the lower part of the cerebellum to protrude from its normal location in the back of the head into the cervical or neck portion of the spinal canal. A syrinx may then develop in the cervical region of the spinal cord. Because of the relationship that was once thought to exist between the brain and spinal cord in this type of syringomyelia, physicians sometimes refer to it as communicating syringomyelia. Here, symptoms usually begin between the ages of 25 and 40 and may worsen with straining or any activity that causes cerebrospinal fluid pressure to fluctuate suddenly. Some patients, however, may have long periods of stability. Some patients with this form of the disorder also have hydrocephalus, in which cerebrospinal fluid accumulates in the skull, or a condition called arachnoiditis, in which a covering of the spinal cord—the arachnoid membrane—is inflamed.Some cases of syringomyelia are familial, although this is rare.
[edit] Acquired
The second major form of syringomyelia occurs as a complication of trauma, meningitis, hemorrhage, a tumor, or arachnoiditis. Here, the syrinx or cyst develops in a segment of the spinal cord damaged by one of these conditions. The syrinx then starts to expand. This is sometimes referred to as noncommunicating syringomyelia. Symptoms may appear months or even years after the initial injury, starting with pain, weakness, and sensory impairment originating at the site of trauma.The primary symptom of post-traumatic syringomyelia (often referred to using the abbreviation of PTS)[3] is pain, which may spread upward from the site of injury. Symptoms, such as pain, numbness, weakness, and disruption in temperature sensation, may be limited to one side of the body. Syringomyelia can also adversely affect sweating, sexual function, and, later, bladder and bowel control. A typical cause of PTS would be a car accident or similar trauma involving a whip-lash injury.
What can make PTS difficult to diagnose is the fact that symptoms can often first appear long after the actual cause of the syrinx occurred, e.g. a car accident occurring and then the patient first experiencing PTS symptoms such as pain, loss of sensation, reduced ability on the skin to feel varying degrees of hot and cold, a number of months after car accident.
[edit] Symptoms
Syringomyelia causes a wide variety of neuropathic symptoms due to damage of the spinal cord. Patients may experience chronic pain, abnormal sensations and loss of sensation particularly in the hands. Some patients experience paralysis or paresis temporarily or permanently. A syrinx may also cause disruptions in the parasympathetic and sympathetic nervous systems, leading to abnormal body temperature or sweating, bowel control issues, or other problems. If the syrinx is higher up in the spinal cord or affecting the brainstem as in syringobulbia, vocal cord paralysis, ipsilateral tongue wasting, trigeminal nerve sensory loss, and other signs may occur.[4] Rarely, bladder stones can occur in the onset of weakness in the lower extremities.[5] Classically, syringomyelia spares the dorsal column/medial lemniscus of the spinal cord, leaving pressure, vibration, touch and proprioception intact in the upper extremities. Neuropathic arthropathy, also known as a Charcot joint, can occur, particularly in the shoulders, in patients with syringomyelia. The loss of sensory fibers to the joint is theorized to lead to damage of the joint over time.[6][edit] Diagnosis
The physician may order additional tests to help confirm the diagnosis. One of these is called electromyography (EMG), which measures muscle weakness. The doctor may also wish to test cerebrospinal fluid pressure levels and to analyze the cerebrospinal fluid by performing a lumbar puncture. In addition, computed axial tomography (CT) scans of a patient's head may reveal the presence of tumors and other abnormalities such as hydrocephalus.
Like MRI and CT scans, another test, called a myelogram, uses radiographs and requires a contrast medium to be injected into the subarachnoid space. Since the introduction of MRI this test is rarely necessary to diagnose syringomyelia.
The possible causes are trauma, tumors and congenital defects. It is most usually observed in the part of the spinal cord corresponding to the neck area. Symptoms are due to spinal cord damage and are: pain, decreased sensation of touch, weakness and loss of muscle tissue. The diagnosis is confirmed with a spinal CT, myelogram or MRI of the spinal cord. The cavity may be reduced by surgical decompression.
Furthermore, evidence also suggests that impact injuries to the thorax area highly correlate with the occurrence of a cervical-located syrinx.
[edit] Treatment
[edit] Surgery
The first step after diagnosis is finding a neurosurgeon who is experienced in the treatment of syringomyelia. Surgery is the only viable treatment for syringomyelia. Not all patients will advance to the stage where surgery is needed. Evaluation of the condition is often difficult because syringomyelia can remain stationary for long periods of time, and in some cases progress rapidly.Surgery of the spinal cord has certain, characteristic risks associated with it and the benefits of a surgical procedure on the spine have to be weighed against the possible complications associated with any procedure. Surgical treatment is aimed at correcting the condition that allowed the syrinx to form. It is vital to bear in mind that the drainage of a syrinx does not necessarily mean the elimination of the syrinx-related symptoms, but rather is aimed at stopping progression. In cases involving an Arnold-Chiari malformation, the main goal of surgery is to provide more space for the cerebellum at the base of the skull and upper cervical spine without entering the brain or spinal cord. This often results in flattening or disappearance of the primary syrinx or cavity, over time, as the normal flow of cerebrospinal fluid is restored. If a tumor is causing syringomyelia, removal of the tumor is the treatment of choice and almost always eliminates the syrinx.
Surgery results in stabilization or modest improvement in symptoms for most patients. Delay in treatment may result in irreversible spinal cord injury. Recurrence of syringomyelia after surgery may make additional operations necessary; these may not be completely successful over the long term.
In some patients it may also be necessary to drain the syrinx, which can be accomplished using a catheter, drainage tubes, and valves. This system is also known as a shunt. Shunts are used in both the communicating and noncommunicating forms of the disorder. First, the surgeon must locate the syrinx. Then, the shunt is placed into it with the other end draining cerebrospinal fluid (CSF) into a cavity, usually the abdomen. This type of shunt is called a ventriculoperitoneal shunt and is particularly useful in cases involving hydrocephalus. By draining syrinx fluid, a shunt can arrest the progression of symptoms and relieve pain, headache, and tightness. Without correction, symptoms generally continue.
The decision to use a shunt requires extensive discussion between doctor and patient, as this procedure carries with it greater risk of injury to the spinal cord, infection, blockage, or hemorrhage and may not necessarily work for all patients. Draining the syrinx more quickly does not produce better outcomes, but a shunt may be required if the fluid in the syrinx is otherwise unable to drain.
In the case of trauma-related syringomyelia, the surgeon operates at the level of the initial injury. The syrinx collapses at surgery but a tube or shunt is usually necessary to prevent re-expansion.
[edit] Other
Surgery is not always recommended for syringomyelia patients. For many patients, the main treatment is analgesia. A typical treatment of syringomyelia involving severe chronic pain would involve two or more medications. One medication for "classical" back pain such as a weak or strong opioid (e.g. tramadol and Oxycontin respectively) combined with a medication to combat any neuropathic pain symptoms such as shooting and stabbing pains (e.g. Neurontin or Lyrica). In addition, paracetamol (called acetaminophen in the United States) can be used to combat headaches. Such long term treatment of chronic pain should be monitored with blood tests to assess any adverse effects of the medication on the liver, with the dosages being then changed accordingly, depending on the outcome of such blood tests.Drugs have no curative value as a treatment for syringomyelia. Radiation is used rarely and is of little benefit except in the presence of a tumor. In these cases, it can halt the extension of a cavity and may help to alleviate pain.
In the absence of symptoms, syringomyelia is usually not treated. In addition, a physician may recommend not treating the condition in patients of advanced age or in cases where there is no progression of symptoms. Whether treated or not, many patients will be told to avoid activities that involve straining.
Since the natural history of syringomyelia is poorly understood, a conservative approach may be recommended. When surgery is not yet advised, patients should be carefully monitored by a neurologist or neurosurgeon. Periodic MRI's and physical evaluations should be scheduled at the recommendation of a qualified physician.
Wednesday, March 2, 2011
Saturday, February 19, 2011
A beautiful SUN in the entrance way, changes colors, too!
Playing with Scruffy before!
Sleeping on the way there...it was early morning!
Sacred Heart Children's Hospital MRI
On February 18th, 2011 Alexis went into Sacred Heart Children's Hospital. She had her MRI done by Dr. Sokolove (sp). He was great. He was in there the whole time. Seemed like a young but wonderful Dr.
We arrived early in the morning. Her appt. to go into the MRI was 10:30am but she didn't actually get in until about 11:40am.
The MRI was a 2 hour procedure. And they used "Precedex" (sp) for her anesthesia. I guess it is a fairly newer drug. They told us that it would take about an hour to two hours to wake up.
It took a little longer for her to wake! She was out and in recovery at 2pm. We were in the recovery until about 4pm, I think. She did wake enough to be able to go home.
And I don't think she fully awoke until 9pm that night. We were able to tell that she was coherent and understanding what we were saying. Her dad was right there and he was talking to her...he said she is such a cute little bugger...she thought he had said she is a "booger"! And her little fingers started to pinch his! Lol. He kept telling Alexis to OPEN your eyes...she said to me, I'm trying!
Now, we are just waiting for the results. I've been so stressed out about all this and haven't been able to sleep very well or eat. Last night, I did get about 13 hours total! Alexis was up off and on, got a little bit of her appetite back.
She was still very groggy and I had to carry her to bathroom.
Today, she is doing well! Seems to have energy again and asked me today...Mom, when am I going to have my MRI???
I said, you already had it! :) Big smiles!!!
Tuesday, February 15, 2011
Valentine's School Party!
Alexis' class had a Valentine's Party. They got to have cupcakes, pretzels, and juice. It was fun to see all the little one's so excited for the Big day!
Alexis had a great time opening all the valentine's with her friends! She got several valentine's from one special person! There is someone who has the biggest crush on Alexis. It is very cute. They have had play dates and enjoy their friendship. But I think Alexis is "only" at a friendship level! WHEW!!! I'm not quite ready for that for many many years to come! :)
After the School party, Alexis had another party to go to! I think she got as many gifts as she did at Christmas time. Love to see her happy and content. She has been down a little bit this week. As someone in her grade is having a party and went out of their way to tell Alexis that she was NOT invited. And to let her know that all of her friends were invited and attending it.
She has more important things to worry about than things like that anyway. I told her that we will do something special for her.
With her going through all this medical stuff on top of this, I want to be here for her, be good to her and maybe do extra special things for her, too! So, what ever she wants...if I can do it, I will!
Love you so much, my little Angel, Alexis!!!!
First MRI (attempt)
February 8th 2011
We headed to Spokane to the Inland Imaging. Alexis was given 5mm of Valium for her MRI. We got there early. And the Valium was making her sleepy. However, we had to wait. I didn't know if it wore off or just wasn't strong enough. It came time to go into the tube and she was awake but sleepy. They laid her down and put ear plugs in. Put a foam pad next to her head. And this thing went over top of her head. Then they put a washcloth over her face, covering everything but her nose. And IN she went. They did get a little bit scanned. But unfortunately, it was too scary for her. They pulled Alexis out of it & tried to calm her down. It worked and we proceeded to scan again. And about 3 minutes later, she was in tears, wiggling and crying! So, out she came and we had to end it there. They were very sweet and gave her some McDonald's coupons, a toy doggie that looked like Misty! And a stamp, I think.
They tried to reschedule the MRI once again. But this time, we have to go to Sacred Heart Pediatric Surgery Center. They will have to anesthetize her this time. After a long, complicated few days, we got her scheduled for February 23rd. I told them that they needed to put us on a cancellation list.
WAITING!!!!! And Friday, the 11th I got the call from Sacred Heart and they had opening for February 18th, 2011. YIPPEEEE!!!
So, now it is a few days before and I am a nervous wreck. Many different emotions. Alexis needs this MRI more than anything. But it scares me that she will have to be put to sleep. And for so many hours.
Also, I am scared of what the results will be, yet we NEED to know what is going on with her little body!
I feel devastated for my little girl.
Please keep her in your prayers. I have met soooo many beautiful, wonderful ladies on the support groups! I can't say how grateful I am for all your support! My heart goes out to all of your sweet little darlings as well! No matter the outcome, these people have touched my hearts and gave me something else to be passionate about!
There are so many children in this world who need help to find cures for their problems. Please think about that. You never know when something can happen to you or a loved one.
God Bless!!!
Friday, February 11, 2011
Getting her XRAYS done 
Alexis scoliosis journey!
I wanted to share a little bit info about what is going on. It is very confusing and hard to understand it all. This all started when we found Scoliosis January 12th 2011. Thanks to Dr. Joan Burrow. My chiropractor. I had asked her to look at Alexis' back. I didn't have any reason just felt we needed to do that. She didn't want it looked at but I insisted! Thank God!
So after quite a journey in finding out & learning about Scoliosis. We were referred to Shriner's Children's Hospital in Spokane, WA.
They did XRAYS and we found out Alexis has Double Curves and the Thoracic Curve is reversed. Meaning Curving to the left. When this happens, there is usually another underlying problem. So we are trying to get MRI done so this will tell us more. Tuesday February 8th, we attempted to get MRI done. They did get a little bit scanned but not enough.
We have a new appointment scheduled for February 18th for 10:30am (9am check in).
They will be putting little Alexis to sleep so this will be done in the Pediatric Surgery Unit.
Left Thoracic Scoliosis
- Discussion:
- left thoracic curvatures are uncommon (1-2% of curves)
- associatted conditions: (33 % of patients)
- occult syrinx;
- treatment of the scoliosis without recognition of syringomyelia and
Chiari malformation can lead to paraplegia;
- Arnold-Chiari
- spinal cord tumor;
- neuromuscular disorder;
- MRI is usually indicated;
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