Sleep Disorder Caused by Brain Malformation
A disease on the rise. A congenital defect known as the Arnold-Chiari malformation, which often is not discovered until a person is in their late 20s, causes severe pain and insomnia. Simultaneous disorders are usually present in a person with this illness. These conditions are scoliosis, degenerative disk disease, syringomyelia, cervicalgia, arachnoiditis and connective tissue disorders. The Arnold-Chiari malformation is characterized by herniation of the cerebellar tonsils beyond the skull’s foramen magnum and into the spinal canal causing compromised cerebrospinal fluid and a “myriad of symptoms,” states the Mayfield Chiari Center. Sleep disorders can be caused by this brain malformation. Intracranial surgery is the only known treatment to correct the defect in part, but the neurological damage from this progressive illness is often said to be permanent.
The greatest problem facing chiari sufferers, debatably, is timely diagnosis. People often suffer for many years due to this brain malformation before a correct diagnosis is made. Misdiagnoses or “differential diagnoses” include, but are not limited to, fibromyalgia, multiple sclerosis, chronic fatigue syndrome, intracranial hypertension and a spinal cord tumor.
Sleep apnea has been repeatedly shown to cause sleep disturbances and respiratory complications. This is a potentially fatal condition that often requires a breathing machine to maintain oxygen levels. Because of increased MRI testing in recent years, the arnold chiari malformation is increasingly being diagnosed in people with chronic pain, sleep apnea, and spinal cord cysts called syringomyelia. The incidence rate of chiari type one is somewhere between one in 1,000 and one in 5,000 people; what used to be rare is now considered uncommon. Although awareness of this condition is spreading, children and adults can die unexpectedly if treatment is postponed.
There are four other defined forms of chiari, with varying degrees of herniation and displacement, including a controversial form, known as chiari zero, where there is no herniation but other abnormalities that cause the same symptoms. The chiari zero diagnosis was established in 1998 by Dr. Jerry Oakes and his research team, and is described in great detail on the CSF Foundation’s website (an unbiased website composed of the research findings from several teams, doctors, and surgeons across the globe). Though paralysis, muscle wasting, and chronic pain are symptoms of this condition, sleep disorders caused by this brain malformation are one of the signs that can be overlooked by both patient and doctor. The specialists at the Mayfield Chiari Center say anyone diagnosed with chiari should undergo sleep studies.
Emma Brotherhood of Coalville, England is a chiari sufferer who speaks about this congenital condition in Leicestermercury. She claims the pain can be so bad at times, she feels like smashing her skull into a wall or drilling a hole into the skull to relieve pressure. She describes her head symptoms as a “migraine on steroids.” Emma states how being connected with people in support groups is comforting, but what scares her are the many deaths that are reported in these groups.
Chiari itself can be fatal from the progressive trauma to the brain stem. This is described in Neurological Science titled under “Treatment of Chiari Malformation: Who when and how.” Suicides have also been reported from within these support groups due to the severe pain association and failed treatment plans. These are expected to diminish on part due to a growing number of physicians who fully understand chiari its associated illnesses.
Another fatal outcome of this condition and sleep disorders in general, is sleepiness. The National Sleep Foundation’s poll in 2005 indicates 37 percent and 103 million people report falling asleep at the wheel, while even more report driving while feeling drowsy. In 2009, Mike M. Ahlers with CNN reported a Boston trolley crash ended in the fatality of the driver who the National Safety Board ruled, “fell into a micro-sleep just prior to the crash.” Sleep disorders in general and sleep disorders caused by chiari brain malformation, should be taken very seriously as drowsiness has shown to be a threat to many lives.
The two types of sleep apnea conditions that can affect both chiari patients and the general public are obstructive apnea and central sleep apnea. “Central sleep apnea starts in the brain, causing a problem with signals going to the muscles controlling breathing,” states the Mayo Clinic Staff. In obstructive sleep apnea there is a physical blockage or hindrance of air through the passageway. Both types have the potential to cause damaging effects on the body and even death.
Other sleep conditions have also been reported in chiari and syringomyelia patients. Syringomyelia is commonly associated with chiari patients but can also be present on its own. Syringomyelia is when a progressive cavity in the spinal canal forms, causing a range of symptoms. Sources from the chiari support group list nocturia, sleep walking, chronic nightmares, trouble falling asleep, and trouble reaching deep sleep as part of their sleep disorder. Many sufferers report having high adrenal gland activity that causes them to lose sleep days on end.
In addition to sleep disorders, cardiovascular illnesses have been reported with chiari malformation. Postural orthostatic tachycardia syndrome (POTS) is on that list. Medical journals consider POTS an autonomic dysfunction. It can cause symptoms ranging from tremor to fainting spells, reports a study from AK Agarwal, R. Garg, and P. Sarkar, from the BMJ Postgraduate Medical Journal. This is a serious condition patients complain about with signs of a resting heart rate above 90 beats per minute and rapidly fluctuating blood pressure upon standing.
Initially being found only in autopsy, chiari poses a challenge for neurosurgeons worldwide. Though not all forms of insomnia are caused by a neurological disease, some sleep disorders are caused by the chiari brain malformation. Top research is currently being done at UCLA, the University of Miami, Duke University and the Chiari Institute in New York. Furthermore, an act called the Ehrick Garion’s Act is an awareness bill created to advocate for people with chiari malformation and their families. Named after two boys who died from chiari, the act is intended to bring about much needed awareness, education and research to avoid needless deaths.
By Lindsey Alexander