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The prevalence of congenital Chiari I malformation, defined as tonsilar herniations of 3 to 5 mm or greater, was previously believed to be in the range of one per 1000 births, but is likely much higher. Women are three times more likely than men to have a congenital Chiari malformation. Type II malformations are more prevalent in people of Celtic descent. A study using upright MRI found cerebellar tonsillar ectopia in 23% of adults with headache from motor-vehicle-accident head trauma. Upright MRI was more than twice as sensitive as standard MRI, likely because gravity affects cerebellar position.
Cases of congenital Chiari malformation may be explained by evolutionary and genetic factors. Typically, an infant's brain weighs around 400g at birth and triples to 1100-1400g by age 11. At the same time the cranium triples in volume from 500 cm to 1500 cm to accommodate the growing brain. During human evolution, the skull underwent numerous changes to accommodate the growing brain. The evolutionary changes included increased size and shape of the skull, decreased basal angle and basicranial length. These modifications resulted in significant reduction of the size of the posterior fossa in modern humans. In normal adults, the posterior fossa comprises 27% of the total intracranial space, while in adults with Chiari Type I, it is only 21%. If a modern brain is paired with a less modern skull, the posterior fossa may be too small, so that the only place where the cerebellum can expand is the foramen magnum, leading to development of Chiari Type I. H. neanderthalensis had platycephalic (flattened) skull. Some cases of Chiari are associated with platybasia (flattening of the skull base).
While there is no current cure, the treatments for Chiari malformation are surgery and management of symptoms, based on the occurrence of clinical symptoms rather than the radiological findings. The presence of a syrinx is known to give specific signs and symptoms that vary from dysesthetic sensations to algothermal dissociation to spasticity and paresis. These are important indications that decompressive surgery is needed for patients with Chiari Malformation Type II. Type II patients have severe brain stem damage and rapidly diminishing neurological response.
Decompressive surgery involves removing the lamina of the first and sometimes the second or third cervical vertebrae and part of the occipital bone of the skull to relieve pressure. The flow of spinal fluid may be augmented 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.
Complications of decompression surgery can arise. They include bleeding, damage to structures in the brain and spinal canal, meningitis, CSF fistulas, occipito-cervical instability and pseudomeningeocele. Rare post-operative complications include hydrocephalus and brain stem compression by retroflexion of odontoid. Also, an extended CVD created by a wide opening and big duroplasty can cause a cerebellar "slump". This complication needs to be corrected by cranioplasty.
In certain cases, irreducible compression of the brainstem occurs from in front (anteriorly or ventral) resulting in a smaller posterior fossa and associated Chiari malformation. In these cases, an anterior decompression is required. The most commonly used approach is to operate through the mouth (transoral) to remove the bone compressing the brainstem, typically the odontoid. This results in decompressing the brainstem and therefore gives more room for the cerebellum, thus decompressing the Chiari malformation. Arnold Menzes, MD, is the neurosurgeon who pioneered this approach in the 1970s at the University of Iowa. Between 1984 and 2008 (the MR imaging era), 298 patients with irreducible ventral compression of the brainstem and Chiari type 1 malformation underwent a transoral approach for ventral cervicomedullary decompression at the University of Iowa. The results have been excellent resulting in improved brainstem function and resolution of the Chiari malformation in the majority of patients.
Initial treatment in lumbar disc disease is one or two days of bedrest (although growing number of studies shows that it makes little difference) and pain relieving medications. In cases with ongoing pain despite conservative treatments, a surgical operation that will remove the compressing disc material, a microdiscectomy or discectomy may be recommended to treat a lumbar disc herniation.
In the majority of cases, spinal disc herniation doesn't require surgery, and a study on sciatica, which can be caused by spinal disc herniation, found that "after 12 weeks, 73% of people showed reasonable to major improvement without surgery." The study, however, did not determine the number of individuals in the group that had sciatica caused by disc herniation.
- Initial treatment usually consists of non-steroidal anti-inflammatory pain medication (NSAIDs), but the long-term use of NSAIDs for people with persistent back pain is complicated by their possible cardiovascular and gastrointestinal toxicity.
- Epidural corticosteroid injections provide a slight and questionable short-term improvement in those with sciatica but are of no long term benefit. Complications occur in 0 to 17% of cases when performed on the neck and most are minor. In 2014, the US Food and Drug Administration (FDA) suggested that the "injection of corticosteroids into the epidural space of the spine may result in rare but serious adverse events, including loss of vision, stroke, paralysis, and death." and that "The effectiveness and safety of epidural administration of corticosteroids have not been established, and FDA has not approved corticosteroids for this use.".
Spinal manipulation is contraindicated for disc herniations when there are progressive neurological deficits such as with cauda equina syndrome.
A review of non-surgical spinal decompression found shortcomings in most published studies and concluded that there was only "very limited evidence in the scientific literature to support the effectiveness of non-surgical spinal decompression therapy." Its use and marketing have been very controversial.
Initial measures can include rest, caffeine intake (via coffee or intravenous infusion), and hydration. Corticosteroids may provide transient relief for some patients. An abdominal binder — a type of garment that increases intracranial pressure by compressing the abdomen — can temporarily relieve symptoms for some people.
Treatment involves removal of the etiologic mass and decompressive craniectomy. Brain herniation can cause severe disability or death. In fact, when herniation is visible on a CT scan, the prognosis for a meaningful recovery of neurological function is poor. The patient may become paralyzed on the same side as the lesion causing the pressure, or damage to parts of the brain caused by herniation may cause paralysis on the side opposite the lesion. Damage to the midbrain, which contains the reticular activating network which regulates consciousness, will result in coma. Damage to the cardio-respiratory centers in the medulla oblongata will cause respiratory arrest and (secondarily) cardiac arrest. Current investigation is underway regarding the use of neuroprotective agents during the prolonged post-traumatic period of brain hypersensitivity associated with the syndrome.
The treatment of choice for this condition is the surgical application of epidural blood patches, which has a higher success rate than conservative treatments of bed rest and hydration. Through the injection of a person's own blood into the area of the hole in the dura, an epidural blood patch uses blood's clotting factors to clot the sites of holes. The volume of autologous blood and number of patch attempts for patients is highly variable. One-quarter to one-third of SCSFLS patients do not have relief of symptoms from epidural blood patching.
Brain herniation is a potentially deadly side effect of very high pressure within the skull that occurs when a part of the brain is squeezed across structures within the skull. The brain can shift across such structures as the falx cerebri, the tentorium cerebelli, and even through the foramen magnum (the hole in the base of the skull through which the spinal cord connects with the brain). Herniation can be caused by a number of factors that cause a mass effect and increase intracranial pressure (ICP): these include traumatic brain injury, intracranial hemorrhage, or brain tumor.
Herniation can also occur in the absence of high ICP when mass lesions such as hematomas occur at the borders of brain compartments. In such cases local pressure is increased at the place where the herniation occurs, but this pressure is not transmitted to the rest of the brain, and therefore does not register as an increase in ICP.
Because herniation puts extreme pressure on parts of the brain and thereby cuts off the blood supply to various parts of the brain, it is often fatal. Therefore, extreme measures are taken in hospital settings to prevent the condition by reducing intracranial pressure, or decompressing (draining) a hematoma which is putting local pressure on a part of the brain.
An inheritable gene variation may cause increased susceptibility. People with a variation in a gene that encodes the cartilage intermediate-layer protein (CILP) were 1.6 times more likely to have the disease than persons without the variation. CILP is a normal component of disc tissue. The gene variant was hypothesized to disrupt normal building and maintenance of cartilage. However, this association was not replicated in a follow-up study of Finnish and Chinese individuals.
There are many recognized spinal diseases, some more common than others. Spinal disease also includes cervical spine diseases, which are diseases in the vertebrae of the neck. A lot of flexibility exists within the cervical spine and because of that, it is common for an individual to damage that area, especially over a long period of time. Some of the common cervical spine diseases include degenerative disc disease, cervical stenosis, and cervical disc herniation. Degenerative disc disease occurs over time when the discs within each vertebra in the neck begin to fall apart and begin to disintegrate. Because each vertebra can cause pain in different areas of the body, the pain from the disease can be sensed in the back, leg, neck area, or even the arms. When the spinal canal begins to lose its gap and gets thinner, it can cause pain in the neck, which can also cause a numb feeling in the arms and hands. Those are symptoms of cervical stenosis disease. The discs between each vertebra have fibers that can begin to deteriorate, and this can occur in cervical disc herniation. This disease is less common in younger people as it is usually a function of aging.
Spinal disease (also known as a dorsopathy) refers to a condition impairing the backbone. These include various diseases of the back or spine ("dorso-"), such as kyphosis. Dorsalgia refers to those conditions causing back pain.
An example is scoliosis. Some other spinal diseases include Spinal Muscular Atrophy, Ankylosing Spondylitis, Lumbar Spinal Stenosis, Spina Bifida, Spinal tumors, Osteoporosis and Cauda Equina Syndrome.
Meningohydroencephalocoele (AmE: meningohydroencephalocele) is a form of meningocele (AmE) - a developmental abnormality of the central nervous system.
Like meningocoele, meningohydroencephalocoele is caused by defects in bone ossification; in particular, the intramembranous ossification related to the closure of infantile fontanelles. It refers to the protrusion of the meninges between the un-fused bones, to lie subcutaneously.
- Meningocoele - refers to herniation of meninges.
- Meningoencephalocoele refers to the condition if brain tissue is included with the meninges in the herniation.
- Meningohydroencephalocoele refers to the condition including meninges, brain tissue and part of the ventricular system in the herniation.
Encephalocoele defects occur in approximately 1 in 2000 live births.
Wobbler disease is a catchall term referring to several possible malformations of the cervical vertebrae that cause an unsteady (wobbly) gait and weakness in dogs and horses. A number of different conditions of the cervical (neck) spinal column cause similar clinical signs. These conditions may include malformation of the vertebrae, intervertebral disc protrusion, and disease of the interspinal ligaments, ligamenta flava, and articular facets of the vertebrae. Wobbler disease is also known as cervical vertebral instability, cervical spondylomyelopathy (CSM), and cervical vertebral malformation (CVM). In dogs, the disease is most common in large breeds, especially Great Danes and Doberman Pinschers. In horses, it is not linked to a particular breed, though it is most often seen in tall, race-bred horses of Thoroughbred or Standardbred ancestry. It is most likely inherited to at least some extent in dogs and horses.
The management of true cauda equina syndrome frequently involves surgical decompression. When cauda equina syndrome is caused by a herniated disk early surgical decompression is recommended.
Cauda equina syndrome of sudden onset is regarded as a medical/surgical emergency. Surgical decompression by means of laminectomy or other approaches may be undertaken within 6, 24 or 48 hours of symptoms developing if a compressive lesion, e.g., ruptured disc, epidural abscess, tumour or haematoma is demonstrated. Early treatment may significantly improve the chance that long-term neurological damage will be avoided.
Surgery may be required to remove blood, bone fragments, a tumor or tumors, a herniated disc or an abnormal bone growth. If the tumor cannot be removed surgically and it is malignant then radiotherapy may be used as an alternative to relieve pressure, with spinal neoplasms chemotherapy can also be used. If the syndrome is due to an inflammatory condition e.g., ankylosing spondylitis, anti-inflammatory, including steroids can be used as an effective treatment. If a bacterial infection is the cause then an appropriate course of antibiotics can be used to treat it.
Cauda equina syndrome can occur during pregnancy due to lumbar disc herniation; age of mother increases the risk. Surgery can still be performed and the pregnancy does not adversely affect treatment. Treatment for those with cauda equina can and should be carried out at any time during pregnancy.
Lifestyle issues may need to be addressed post - treatment. Issues could include the patients need for physiotherapy and occupational therapy due to lower limb dysfunction. Obesity might also need to be tackled.
Wobbler disease is also found in horses, where it is often called wobbler's syndrome; it refers to several conditions beyond those listed above and is not by itself a singular disease. Wobblers is a broad term used to describe cervical disorders in the horse, including equine wobbles anemia and cervical vertebral myelopathy, spinal cord compression (sometimes referred to colloquially among horse owners as "cervical arthritis" due to the arthritis that accumulates in facets). It is also used as a catch-all phrase within the horse community to describe a neurological problem that causes limb proprioception issues or decreased performance in the horse that is suspected to be rooted in the neck. Most forms of wobblers disease have a root cause in cervical vertebral myelopathy (CVM), which causes inflammation and arthritis in the joint and is painful to affected horses. At this time it is believed to possibly be a congenital condition. Mounting evidence is growing that points to CVM and other cervical and vertebral disorders (like Kissing Spine) as hereditary and found in populations of specific families. .
Other forms, such as cervical arthritis and equine wobbles anemia, are concentrated in certain breeds and demonstrate possible hereditary factors. Horses with wobbler disease often exhibit ataxia (implying dysfunction of parts of the nervous system), show weakness in the hindquarters, or may knuckle over in their fetlocks, particularly in the rear. They also may show overall stiffness especially in the neck and back and may not move fluidly. A common ataxic symptom is the horse will list to one side behind. They also may demonstrate uneven strides with one leg intermittently shorter in step. Horses with wobblers or cervical anomalies can demonstrate difficult to diagnose lamenesses that come and go, and often are not resolved by veterinary blocks to the limbs. With advanced stages of the disease, affected horses are prone to falling due to extreme listing behind and often demonstrate difficulty getting up from lying down, or reluctance to lie down at all. While some cases are successfully treated with nutritional and medical management, surgery is also used. One method is the use of titanium baskets, placed to fuse the vertebrae, thereby preventing compression of the spinal cord. Some horses are able to return to work, with a few able to reach competitive levels. No complete cure for the condition is known. Famous horses known to have completed basket surgery include Seattle Slew. Seattle Slew underwent two basket surgeries and has sired multiple offspring that have cervical arthritis. He is one of many Thoroughbred stallions to have undergone basket surgery and still be used for stud.
Because wobbler's is the best known of the neurological conditions that affect horses, other, unrelated conditions, such as kissing spine, equine protozoal myeloencephalitis and cerebellar abiotrophy, are sometimes misdiagnosed as wobbler's, though the causes and symptoms differ.
Early diagnosis can allow for preventive treatment. Signs that allow early diagnosis include changes in bowel and bladder function and loss of feeling in groin.
Grynfeltt described a hernia through the superior lumbar triangle in 1866 (Grynfeltt, 1866). In 1870, Lesshaft independently reported a similar case (Lesshaft, 1870).
Grynfeltt-Lesshaft hernia is a herniation of abdominal contents through the back, specifically through the superior lumbar triangle, which is defined by the quadratus lumborum muscle, twelfth rib, and internal oblique muscle.
Treatment for individuals with Dandy–Walker Syndrome generally consists of treating the associated problems, if needed.
A special tube (shunt) to reduce intracranial pressure may be 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 teacher of students with blindness/visual impairment may be helpful if the eyes are affected.
In most cases, isolated diaphragmatic rupture is associated with good outcome if it is surgically repaired. The death rate (mortality) for diaphragmatic rupture after blunt and penetrating trauma is estimated to be 15–40% and 10–30% respectively, but other injuries play a large role in determining outcome.
Cerebellar stroke syndrome is a condition in which the circulation to the cerebellum is impaired due to a lesion of the superior cerebellar artery, anterior inferior cerebellar artery or the posterior inferior cerebellar artery.
Cardinal signs include vertigo, headache, vomiting, and ataxia.
Cerebellar strokes account for only 2-3% of the 600 000 strokes that occur each year in the United States. They are far less common than strokes which occur in the cerebral hemispheres. In recent years mortality rates have decreased due to advancements in health care which include earlier diagnosis through MRI and CT scanning. Advancements have also been made which allow earlier management for common complications of cerebellar stroke such as brainstem compression and hydrocephalus.
Research is still needed in the area of cerebellar stroke management; however, it has been proposed that several factors may lead to poor outcomes in individuals who suffer from cerebellar stroke. These factors include:
1. Declining levels of consciousness
2. New signs of brainstem involvement
3. Progressing Hydrocephalus
4. Stroke to the midline of the cerebellum (a.k.a. the vermis)
There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms. Generally, treatment is symptomatic and supportive. Balance rehabilitation techniques may benefit those experiencing difficulty with balance. Treatment is based on the underlying disorder and the symptom severity. Therapies include physical, occuptational, speech/language, visual, psych/ behavioral meds, special education.
A significant complication of diaphragmatic rupture is traumatic diaphragmatic herniation: organs such as the stomach that herniate into the chest cavity and may be strangulated, losing their blood supply. Herniation of abdominal organs is present in 3–4% of people with abdominal trauma who present to a trauma center.
The prognosis of this developmental disorder is highly based on the underlying disorder. Cerebellar hypoplasia may be progressive or static in nature. Some cerebellar hypoplasia resulting from congenital brain abnormalities/malformations are not progressive. Progressive cerebellar hypoplasia is known for having poor prognosis, but in cases where this disorder is static, prognosis is better.