Arnold Chiari Malformation
First I will give a clinical overview of Arnold-Chiari Malformation, then I will add my own personal experience with Chiari and describe the disease in user-friendly terms.
Wonderful Video Explaining Chiari
The Clinical Explanation
Arnold Chiari malformation was first described in the 1890’s by Hans Chiari and later officially defined by Hans Chiari’s colleague Dr. Julius Arnold, thus the name. Arnold-Chiari Malformation, also simply called Chiari, is a disease of the hindbrain and is characterized by a downward placement of the cerebellar tonsils through the foramen magnum. The crowded space at the base of the skull may hinder the Cerebro Spinal fluid (CSF) flow causing several different symptoms that could change over time. Symptoms will depend on the stage of Chiari an individual has. There are 4 different severities of the disease and they are labeled I – IV, with Arnold-Chiari Malformation IV being the most severe and often fatal form.
Type I is a congenital malformation, meaning it is present as birth. But it does not normally present symptoms until later in life as the brain grows and the base of the skull does not. Type I is the most common form of Chiari and manifests with headaches, cerebellar symptoms and herniation of cerebellar tonsils. (Note: Some Chiari I can be acquired through severe head trauma or due to hereditary disorders of connective tissue.)
Type II is cerebellar herniation accompanied by a lumbar myelomeningocele, an unfused portion of the spinal column that allows the spinal cord to protrude through an opening. With Type II the cerebella herniation is typically more severe.
Type III is more rare than Types I and II and it causes severe neurological defects and is associated with an occipital encephalocele, a sac-like protrusion of the brain and its membranes through an opening in the back of the skull.
Type IV is the rarest form of Arnold-Chiari malformation and is characterized by a lack of cerebellar development.
Symptoms of Chiari
Symptoms of Chiari are typically neurological in nature and can include:
Headache – especially after straining such as laughing really hard, sneezing or coughing
Tinnitus – ringing of the ears
Dizziness and vertigo
Nystagmus – irregular eye movements
Impaired gag reflex
Restless Leg Syndrome (RLS)
Dysphagia – difficulty swallowing
Dysautonomia – rapid heart rate, fainting, extreme thirst, chronic fatigue
If the blockage of Cerebro-Spinal Fluid (CSF) flow causes a syrinx to form the patient may develop syringomyelia, a fluid filled sac on the spinal column. Central cord symptoms can then present such as hand weakness, dissociated memory loss, and even paralysis.
Arnold-Chiari I is usually diagnosed when the patient presents to the doctor with complaints of neurological symptoms or headaches. The doctor then orders an MRI or a 3-D CT. The herniation can be seen with either of these imaging devices. Then the doctor will likely follow up with a neurological exam. Arnold Chiari II, III, and IV can be detected prenatally by ultrasound.
Depending on the symptoms the patient may need decompression surgery to relieve some of the pressure in the back of the skull. This is done by a neurosurgeon who removes part of the skull and sometimes the first, second and third cervical vertebrae.
My Personal Experience
I’m afraid to sneeze. Yes, you heard me right. I’m afraid to sneeze – I might push my brain out of its normal resting place. I was diagnosed with Arnold-Chiari Malformation I a few years back. Due to my OCD tendencies I researched as much as I could about the congenital abnormality. Sadly, at the time of my diagnosis not much information was available. Heck, there wasn’t even an entry for Chiari on WebMD! Today, there is information all over the internet and the disease is gaining more attention.
Chiari is an abnormality of the hind brain where the bottom of my brain hangs out of the back of my skull and into my spinal column. No biggie, right? At least that’s what the neurosurgeon said when I went to visit him for a consultation several years back. He said the 7mm herniation from both sides of my brain was no big deal but he would perform the decompression surgery for me if I wanted. What? Did I hear that right? I got to decide if I wanted…wanted….brain surgery?! Let’s go with “no thank you”. So at least now I have a diagnosis for all the symptoms I’ve dealt with for a very long time. What next? Well, nobody seemed to know at that time so I took the denial approach. Yup, I pretended nothing was wrong, hoped for the best, and prayed more research would be completed while I was waiting for something to happen. I spent months depressed, I spent months acting like I’d never heard of Chiari, I spent months afraid to hold my head in the wrong position. Now for the most part I’m aware and somewhat cautious. I listen to my body and don’t push the limits with exercise, I don’t lift heavy items, and I don’t hit my head. I treat the pain with a heating pad, Motrin and extra rest. I try not to complain too much. This is one of those invisible diseases where friends and family say “You look just like the rest of us” and doctors say “No big deal” because they don’t know what else to say yet. My favorite is when people make jokes that the symptoms must all be in my head. Really? Well, not in it per se, but definitely FROM it!
My symptoms vary from day to day depending on what I do. And heaven forbid I get a cold. The coughing fits and fevers bring on excruciating headaches that leave me crying. The consistent symptoms include headache, general achiness, tinnitus and exhaustion. Sometimes I get dizziness that could also be from sinuses and allergies. Sometimes I get blurry vision but I also have astigmatism. Sometimes I have trouble swallowing but I also have GERD so it could just be from years of acid reflux. So I have decided I will pass on surgery until more research is done and until I can no longer justify the way I live. For now, I’m managing just fine the way I am. Plus I still get to make jokes that I’m too smart for my own good. I’m so smart I can’t even keep my brain in my head.
Public Figures with Chiari
Joanna David (English actress)
Marissa Irwin (fashion model)
Chris Dugan (former NFL kicker for Buffalo Bills)
JB Holmes (Pro golfer)