Description:

Alzheimer’s Disease is one of the most common forms of dementia, comprising 50-75% of all cases. Dementia is a general term for impairment, or loss of intellectual capacity or memory, due to the loss/damage to neurons in the brain. The greatest known risk factor for Alzheimer’s dementia is increasing age. Patients rarely show symptoms before the age of 50, but risk for the disease quickly doubles every 5 years, starting from a level of 1% for the 60 to 64-year-old population and reaching 40% or more for the 85 to 89-year-old cohort. These symptoms are thought to be due to the progressive loss of neurons in the cerebral cortex of the brain, usually involving the frontal lobe. This degeneration usually results in progressive loss of mental function, which worsens over time. Dementia, in the case of Alzheimer’s Disease, can advance to be serious enough to interfere with daily life.

Scientists think that Alzheimer’s dementia results from the accumulation of proteins on neurons, which develop into what is termed plaques and tangles. These plaques are deposits of a protein fragment called beta-amyloid, and the tangles are composed of twisted fibers from the protein called tau. These proteins disrupt the communication between neurons in the brain and cause their degeneration. The reason these plaques and tangles develop in Alzheimer’s Disease is being heavily researched. Scientists are trying to better understand the pathogenesis of this disease to ultimately develop more effective diagnostic tools and treatments.

Symptoms:       

The first symptom a patient may notice is an increase in forgetfulness and moderate confusion. The brain may no longer be able to interpret what the patient is seeing so they may frequently get lost in familiar places. Over time these symptoms may worsen. Patients may have difficulty organizing their thoughts and emotions. They may become easily agitated and their conversational skills may dramatically decrease. Alzheimer's patients may develop spatial and orientation problems. They may become disoriented and lose their sense of time. These patients may develop problems with routine daily activities and tasks. Thinking and reasoning is often impaired which results in poor judgment. Family and friends are usually the first to note a change in personality and behavior; thus, they are vital to the patient’s diagnosis and care.       

Currently there is no specific test that can confirm a patient has Alzheimer’s Disease. This disease can only be diagnosed with complete accuracy after death by microscopic examination of brain tissue. To help the physician distinguish the symptoms of Alzheimer’s disease from other dementia-like disorders, a series of tests may be suggested. The physician will usually begin with a physical exam focusing mostly on neurologic health. A brief mental status test will allow for the physician to gauge your memory and thinking skills. This test usually includes a series of common questions and simple tasks such as, writing down a complete sentence, remembering three words, and following a three-step command. Further Neuropsychological testing and brain imaging may be needed to rule out all other possible dementias. The physician may even refer the patient to an Alzheimer’s specialist, a special type of neurologist, for a more complete diagnosis. Together, all this information can help the healthcare team make a diagnosis that a patient’s symptoms and signs are Alzheimer's.

Treatment:

Unfortunately, there is no available cure for Alzheimer’s Disease. However, many treatments have minimized the disease progression and symptoms. There are many medications for memory such as cholinesterase inhibitors, which help maintain levels of certain neurotransmitters in the brain. This helps with brain function and memory loss. Other medications can be prescribed for sleep problems and behavioral symptoms. In addition to prescribed medication, patients may take dietary supplements. Most of these supplements, however, are not rigorously scientifically researched; thus, their use is not recommended by the FDA for treatment of Alzheimer's. 

Beyond medication and supplements, an important part of an Alzheimer’s treatment is creating a safe and supportive living environment. Simple gestures such as removing excess furniture and applying handrails in the patient’s living space can reduce the risk of falls. It is also suggested to reduce the number of mirrors in the home. People with Alzheimer’s may find the images confusing or frightening. Keeping a daily routine can help a patient feel relaxed and unsurprised. Regular exercise, good nutrition, and good hygiene are an important part of the patient’s wellness plan. Exercise can promote a restful sleep and prevent constipation. Alzheimer’s patients may develop trouble walking, thus they may require daily assistance. Supportive care is vital in a successful Alzheimer’s patient treatment, thus healthcare professionals and family/friends must work together to obtain an optimal treatment plan.

Ashley Loan and Justin F. Fraser, MD

Diagnosis And Epidemiology:

Amyotrophic lateral sclerosis (ALS), also referred to as “Lou Gehrig’s disease,” is a progressive motor neuron disease affecting the nerve cells in the brain and spinal cord. Motor neurons are small bundles of nerves that run from the brain to the spinal cord then from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons causes them to die and the brain loses the connection with the muscle which results in a lack of muscle control. This ‘disconnection’ then causes the muscle to lose neuron nourishment and stimulation resulting in muscle atrophy (become smaller in mass). 

In about 10% of cases, ALS is due to an inherited genetic defect. In all other remaining cases the cause is unknown. ALS currently affects approximately 5 out of every 100,000 people world-wide. There is no known risk factor for ALS, except for having a family member who has had the hereditary form of the disease. The biological mechanisms that cause ALS are only partially understood and may be due to a particular gene called SOD1. A mutation in this gene is thought to make a protein that is toxic to the motor nerve cells. Due to the accumulation of this toxin, people with ALS progressively lose the ability to function and care for themselves. They no longer have voluntary control over their muscles and eventually lose involuntary control that is required for vital organ systems.

The initial onset of ALS symptoms may be so slight that they are frequently overlooked. Most symptoms develop later in adulthood, usually after the age of 50. However, they can occur in younger people. People who experience ALS have a loss of muscle strength and coordination that gradually gets worse. Muscle weakness may occur in hands, arms, legs or the muscles of speech, swallowing, or breathing. Often the early signs include twitching (fasiculations) and muscle cramps, especially in the hands and feet. These signs can vary significantly from person to person. Often times the symptoms begin with tripping or falling spells, others, however, may present with slurred speech or episodes of crying/laughing.  

Muscle weakness is the hallmark sign in ALS, occurring in approximately 60% of patients. Hands and feet maybe affected first. Noted signs of weakness such as difficulty lifting items, buttoning clothes, or walking are common signs. As the disease begins to worsen, it spreads to the trunk muscles of the body. This leads to dysfunction or weakening of speech, swallowing, chewing, and breathing. When breathing muscles become affected the patient will require permanent ventilatory support to survive. These signs represent the end stage of the disease process. 

The health care provider will take a medical history and physical exam. The physical exam will usually include an extensive strength and endurance exam. This will assess the patient’s degree of muscle weakness throughout the body. This may show weakness beginning in a particular area, muscle tremors, spasms, twitching, or atrophy. A patient with ALS may even present with an abnormal gait (they may walk stiff or clumsily). Reflexes are often abnormal in that they will be increased at the joint and reduced in the gag reflex. Some patients may have trouble controlling episodes of crying or laughing often termed “emotional incontinence.” 

Blood tests may be used to rule out other conditions that lead to muscle weakness. MRI or CT scans may be required to rule out other diseases or injury to the neck which can often mimic ALS symptoms. Electromyelography (EMG) will help to determine which nerves are being affected by the disease. Additional swallowing studies and pulmonary function tests may assist in diagnosis and treatment protocols. Genetic testing is commonly suggested by the physician if there is a family history of ALS or to obtain information for current nerve studies.

Unfortunately, scientists are unaware of what causes ALS and the disease currently cannot be cured. Even though physicians can not reverse the progression and symptoms of ALS, there have been considerable medical advances which extend and improve the life of patients with this disease. Neurologists trained in neuromuscular conditions and other healthcare specialists work as a team to care for patients with this complex condition. Often this treatment is focused on relieving symptoms and maintaining good quality-of-life. Therapy may differ from person to person and modifications to the treatment plan may often be changed with progression of the disease. 

Physical therapy is very important to help patients relieve cramping and muscular pain. Passive stretches and daily movement help prevent permanent contraction of muscles. If muscles become contracted they may cause joint problems and develop permanent stiffness. Other therapies, such as speech, may help the patient work mouth and swallowing muscles to extend their function. Some drugs such as riluzole may be prescribed to extend life expectancy by reducing damage to motor neurons. This treatment may not be for every patient, but it has been approved by the FDA for the treatment of ALS. Other drugs such as baclofen (Lioresol®) or tizanadine (Zanaflex®) are used to relieve spasticity. Several drug combinations may be tried by the healthcare team and changes the disease progresses. However, none of these treatment options are a cure for ALS and are only effective at slowing disease progression and prolonging life.     

Ashley Loan and Justin F. Fraser, MD

Ankylosing Spondylitis is a chronic inflammatory disease that affects the joints and spine. It is a type of arthritis of the spine. It literally means “inflammatory stiffening of the spine.” It typically occurs more in men than women, and usually in young adults, ages 17-35 years old. It is not hereditary; however, primary relatives have an increased risk of developing ankylosing spondylitis.

The disease usually begins with pain and stiffness in the sacroiliac joints, or the hips, then gradually progresses up the spine. The inflammatory process specifically occurs in the hip joints as well as the small joints of the spine between the vertebrae. This inflammation results in thickening of ligaments and calcification or hardening of intervertebral discs, as well as demineralization of the vertebrae. These changes in the spine cause stiffening and limitation of movement.

A diagnosis is made when lower back pain is present for at least three months. It is characterized by morning stiffness with improvement throughout the day. It also improves with exercise and movement. It is not relieved by rest, and there is usually no sharp pain radiation down the legs. There can also be limitation of chest expansion. The changes in the spine can lead to a straightening of the normal lumbar curve and an exaggeration of the thoracic curve. The patient with long standing disease may have kyphotic deformities leaving them bent forward.

An X-ray of the spine can show erosion of the vertebrae and sacroiliac joints as well as hardening and calcification of discs and ligaments. In later disease, the spine appears as a "bamboo" on X-ray. An MRI can be performed to rule out other causes of back pain, such as herniated discs.

Treatment is initiated with non-steroidal anti-inflammatory drugs such as indomethacin, and sometimes high doses of ibuprofen. For more severe symptoms, a special class of drugs call TNF-inhibitors such as etanercept and inflixumab can be employed. For complications of the disease, surgical decompressive laminectomy and spine fusion can be done to alleviate pain. Typically noncomplicated disease can be treated with medications for an improved outcome.

Lindsey Parker PA-C; Justin F. Fraser M.D. 

References

McPhee, S.; Papadakis, M.; Tierny, L. (2008). Current Medical Diagnosis and Treatment. 47th edition. McGraw Hill-Medical.

An arachnoid cyst is a congenital abnormality within the brain or the spinal canal. It occurs during the development of the arachnoid membrane before birth. Thus, it is not a tumor. It occurs in males four times more frequently than in females, and more in the left side of the brain than the right side of the brain. It is typically an incidental finding, meaning it rarely causes symptoms.

The arachnoid membrane is one of the covering layers of the brain that also extends down and covers the spinal cord as well. An arachnoid cyst occurs when the developing arachnoid membrane splits and forms a fluid filled cavity or cyst. This is usually filled with cerebrospinal fluid which also surrounds the brain and spinal cord. As the child matures the brain develops around the cyst. There may be a skull protrusion or a bump over the location of the cyst.

Arachnoid cysts are mostly asymptomatic, but symptoms depend on the location of the cyst within the brain. Possible symptoms of increased pressure in the brain include headaches, nausea and vomiting, and lethargy. Other symptoms include seizures, hemorrhage, focal skull protrusions, hydrocephalus (water on the brain), endocrine dysfunction, head bobbing, and visual impairment.

Cysts are typically found incidentally on CT or MRI scan, which show size and location. If concerned about the flow of cerebrospinal fluid, special cerebrospinal fluid flow studies can be performed to see if there is obstruction of the flow.

If the cyst is asymptomatic, it can be followed by a repeat imaging study in 6-8 months to check for any changes. If any symptoms arise, or if it progresses in size, definitive treatment may be undertaken.  Treatment options include drainage, shunting, and fenestration.  Fenestration can be performed endoscopically (through a small incision, using an endoscope) or through a craniotomy.  This is performed by opening the skull, and making several small holes in the cyst wall, allowing it to communicate with the normal flow of cerebrospinal fluid.

Lindsey Parker PA-C; Justin F. Fraser M.D.

Arteriovenous malformations (AVMs) are abnormal collections of blood vessels in the brain or spinal cord.  AVMs are congenital, meaning patients are typically born with them, though they often do not cause symptoms until later in life.  They are abnormal ‘tangles’ of vessels in which one or more arteries provide blood supply, and they drain into enlarged veins.  AVMs are much less common than intracranial aneurysms; they are estimated to be present in approximately 0.14% of the population.

The most common way in which AVMs present is by bleeding and causing neurologic symptoms; these can include weakness, numbness, visual changes, changes in speech, and lethargy/coma.  These symptoms can mimic a stroke.  In addition, AVMs may also cause seizures, and, occasionally, headaches.  The yearly risk of bleeding from an AVM is estimated to be approximately 2-4%, though may vary significantly. 

AVMs may be evaluated using a number of tests including CT and MRI.  However, the best method for understanding the anatomy of an AVM is cerebral angiography.  Options for treatment include surgical resection (typically approached via craniotomy in the head or laminectomy in the spine), endovascular embolization (gluing of the AVM from the inside), and radiosurgery.  In some cases, an AVM may require more than one treatment, or even a combination of treatments (embolization + surgery, for example).  After treatment, cerebral angiography is the best method to assess whether the lesion has been completely treated.

Justin F. Fraser, MD 

References

McCormick WF:  The pathology of vascular (‘arteriovenous’) malformations.  J Neurosurg. 1966.  24:807-16.

Crawford PM, West CR, Chadwick DW et al: Arteriorvenous malformations of the brain: Natural history in unoperated patients.  J Neurol Neurosurg Psychiatry.  1986.  49:1-10. 

Jafar JJ, Davis AJ, Berenstein A et al: The effect of embolization with n-butyl cyanoacrylate prior to surgical resection of cerebral arteriovenous malformations.  J Neurosurg.  1993.  78:60-9.

An astrocytoma is the most common type of primary brain cancer. There are several types based on cell function and severity. There are roughly 12,000 new cases found every year in the United States. These can be very aggressive cancers.

Astrocytomas arise from a special type of cell in the white matter of the brain. This cell is called an astrocyte and is star-shaped. Astrocytes have a supportive role to the neurons, or nerve cells, in the brain. They help with the nutrition, protection, and functioning of the nerve cells. In astrocytomas, these cells grow without any regulation and form a mass. If the cells grow uncontrollably and rapidly it is termed malignant. If these cells are not doing their job, then the neurons in the brain are neglected. The growing mass of cells pushes on the brain creating an increase in pressure. These cells also take all the nutrients that the working cells need to function. Thus, the neurons in the brain are damaged when astrocytomas occur.

Astrocytomas are graded or grouped according to their severity. There are low grade astrocytomas that occur in children and young adults. Then there are malignant astrocytomas such as “anaplastic astrocytoma” and “glioblastoma.” These typically occur in adults in their forties and fifties. These can grow fast and have multiple tumors. Glioblastomas are the most malignant. The low grade astrocytomas can progress to one of these malignant tumors. When this happens it is known as a “secondary” brain tumor. Any of the tumor types can develop without any previous problems.

Low grade astrocytomas usually present with seizures first. Any of these brain cancers can increase the pressure on the brain, with symptoms of headache, nausea, and vomiting. Patients can also have changes in consciousness, personality changes, and neurologic deficits, all based on the location of the tumor within the brain. Neurologic deficits are things like weakness or paralysis in the arms or legs, tremors, decreased sensation, difficulty speaking, slurred speech, confusion, drowsiness, memory loss, trouble hearing, or trouble with vision.

If a brain tumor is suspected, a brain scan is done: either a CT or MRI. And a special scan called a PET scan may also be done. A diagnosis may require surgical brain biopsy. A brain biopsy is where the neurosurgeon makes a small hole in the skull and takes a sample of the tumor for testing.

Based on the specific diagnosis and severity, one of the following or a combination of the following  may be used to treat the tumor: surgical resection, radiation, or chemotherapy. Surgical resection involves a craniotomy and removal of as much tumor as possible. In a craniotomy a large hole is made in the skull and the tumor is accessed. A complete removal is ideal, but sometimes, based on the location and size, this is not feasible or safe. If the tumor is very aggressive, a debulking of the tumor may help with symptoms. This is where they perform a craniotomy and remove portions of the tumor to alleviate pain and symptoms. 

Surgery may be followed by treatment with radiation and/or chemotherapy. Radiation and chemotherapy can be used to stop the tumor from growing any further. Radiation attempts to kill or stunt the cancer cells with high energy. Chemotherapy also attempts to kill/stunt the cancer cells with chemicals. Radiosurgery may be used, where a very high energy beam of radiation is directed specifically on the tumor to kill the cancer cells.

The treatment outcome depends on the patients’ age, cell type, severity of symptoms, and location of the tumor. Again, this cancer has the potential to be very aggressive. Surgery, radiation, and chemotherapy can be used to cure or to make the brain cancer as tolerable as possible. Survival rates vary by type of tumor. Your doctor will discuss the best options and the specific type of tumor with the patient.

Lindsey Parker PA-C; Justin Fraser M.D.

Atherosclerosis is known as hardening of the arteries. It refers to lipids or fats, such as cholesterol, being deposited into the artery wall making it rigid. Also, during this process a plaque forms. This plaque can break lose and cause a blockage of an artery down stream. Stenosis is a related condition that literally means narrowing of the arteries. This narrowing is a result of the plaque and fatty build up in the arterial wall. A narrowing can cause decreased blood flow to the area supplied by that artery.  

The carotid arteries are two arteries on either side of the neck that supply blood to the brain. These are the arteries you can use to take your pulse. If any plaque breaks loose, it is called an embolus; it can flow toward the brain and block blood from getting to the brain. The embolus can be small or large.  A significant narrowing, or stenosis, of the carotid artery results in decreased blood flow to the brain.

Sometimes carotid atherosclerosis and stenosis is asymptomatic. It becomes symptomatic with any sign of ischemic episode such as a TIA or stroke. Eighty percent of strokes come without warning. At a doctor’s visit, the doctor listens to either side of the neck over the carotid arteries to see if there is a carotid bruit. A bruit is a rushing sound that the blood makes as it squeezes through a narrow portion of the artery.

Evaluation of the carotid arteries may include an ultrasound, MRA, or a CT-angiogram; all of these tests are noninvasive.  Conventional cerebral angiography may also be needed at times; while an invasive study, it is relatively low risk, and provides the best high-resolution pictures of the arteries.

Sometimes a stenosis, particularly if asymptomatic, can be managed without surgical intervention.  Typically, a physician will recommend very important measures, including medications, to control blood pressure and lower cholesterol.  Smoking cessation is also very important, as it contributes to this disease.  ‘Blood-thinning’ medications called anti-platelet agents are typically prescribed to prevent embolic strokes; these include drugs such as Aspirin and Plavix.  If the stenosis is significant, surgical intervention may be recommended.  This typically entails one of two procedures:  carotid endarterectomy or carotid angioplasty with stenting.  Carotid endarterectomy entails an open surgery of the neck during which the surgeon opens the carotid artery and physically cleans out the plaque, sewing it closed at the end.  Carotid angioplasty and stenting entails performing an angiogram during which a balloon is advanced within the artery and inflated to open the narrowing in the artery from the inside.  A stent is then left in place to keep the artery open.  Both treatments are useful; a surgeon who performs these operations can help determine which is most appropriate for each patient.

Lindsey Parker PA-C and Justin F. Fraser M.D.

Chordoma is a rare form of bone cancer located in the skull and spine. It is a slow growing cancer that has shown to metastasize to lungs, liver, lymph nodes and skin in 20-30% of affected people. This type of bone cancer has a tendency to relapse. The incidence of chordoma is 1 in 1 million people.

The symptoms a patient may experience depend upon the location of the tumor.  For patients with a tumor in the lower back, symptoms include low back pain, leg pain, leg weakness/numbness, and bladder and/or bowel incontinence.  Patients with a tumor at skull base may have headaches, blurred vision, and/or double vision.  Noninvasive imaging studies such as CT and MRI may be used to evaluate this tumor.

Treatments for chordoma include surgery followed by radiation therapy. Chemotherapy has showed not to be an effective treatment for chordoma. With maximal treatment, the average lifespan of a person with this condition is 5 years, though some patients may survive the disease.  Scientists are conducting research in order to provide better treatments for chordoma. 

Eseosa Ighodaro and Justin F. Fraser M.D.

References
Diaz, Roberto J. “The Biological Basis for Modern Treatment of Chordoma,” Journal of Neuro-oncology. Volume 104, March 2011, Pages 411-422
Launay, Simon. “Efficacy of epidermal growth factor receptor targeting in Advanced Chordoma: Case Report and Literature Review,” BMC Cancer. Volume 11, Issue 11, October 2011, Page 423

Cauda Equina Syndrome is a syndrome involving a group of signs and symptoms that are caused by compression of the cauda equina. Cauda equina literally means “horse’s tail,” named for its appearance. The spinal cord has many nerve roots and rootlets that branch off of it. In the upper spine these nerve roots branch off at specific levels and exit the spinal canal between the vertebrae. The lower lumbar nerve roots and the sacral nerve roots travel down past the end of the spinal cord before they exit. In the lower spinal canal this looks like a bundle of nerves that resembles a horse’s tail, hence ‘cauda equina’.

Cauda equina syndrome occurs when the cauda equina is compressed, and this compression causes dysfunction of the lower lumbar and sacral nerve roots. Compression can be caused by a large herniated disc, spinal tumor, trauma with a free bone fragment, a spinal hematoma or abscess, or can be a complication after spinal surgery.

Symptoms can include “saddle anesthesia,” or groin numbness in a distribution as if sitting on a saddle. Motor weakness, or trouble walking, can occur. This can lead to paraplegia, or paralysis, if left untreated.  Other symptoms include low back pain, sciatica, sexual dysfunction, urinary retention, or urinary or fecal incontinence. These are all things controlled by the lower lumbar and sacral nerve roots. These can occur suddenly or gradually. 

Treatment is usually surgical with a laminectomy with or without microdiscectomy.  The procedure relieves the compression on the nerves of the cauda equine. 

Lindsey Parker PA-C; Justin F. Fraser M.D.

Cerebrospinal Fluid Leak is an abnormal leak of cerebrospinal fluid (CSF) caused by a tear in the membrane covering the brain. CSF is a clear colorless fluid that cushions the brain during trauma and provides nourishment for it.  CSF is located within spaces of the brain called ventricles and subarachnoid spaces.  However, when the membrane surrounding the brain (called the dura) weakens or tears, CSF can leak. Cerebrospinal Fluid Leak occurs in 5 out of 100,000 people.   

CSF leak may be caused by severe traumatic injury to the brain, a ruptured/leaking encephalocele, or recent cranial/spinal surgery.  People with this condition may commonly experience headaches, light sensitivity, neck stiffness.  The leak may manifest as a intermittent or persistent dripping of clear fluid from the nose, or persistent ‘salty taste’ in the back of the throat.  More severe symptoms include hearing loss, meningitis, and coma. Several types of studies may be used to diagnose and locate a CSF leak, including MRI, CT scan with intrathecal contrast, nuclear tracer studies, and direct endonasal examination by an ENT surgeon.

In many cases, cerebrospinal fluid leaks may heal with bed rest and hydration. A blood patch can be used to seal the tear in the dura if the CSF leak is in the spine. For persistent cases, especially cranial CSF leaks, surgical intervention may be needed.  This often involved endoscopic endonasal repair performed through the nostrils with an ENT and neurosurgeon together.

Eseosa Ighodaro and Justin F. Fraser, M.D.  

References

Schievink, Wouter. “Spontaneous Spinal Cerebrospinal Fluid Leaks and Intracranial Hypotension,” The Journal of the American Medical Association. Volume 295, Issue 19, May 2006, Pages 2286-2296 

Raine, Christopher. Diagnosis and Management of Otologic Cerebrospinal Fluid Leak, Otolaryngologic Clinics of North America, Volume 38, Issue 4, August 2005, Pages 583-595

Cerebral vasospasm is a condition in which the blood vessels in the brain narrow, thereby reducing blood flow to the brain and subsequent death of brain tissue.  The typical vessels involved are those in the Circle of Willis, an area at the base of the brain that connects the large arteries in the brain to each other.  This condition usually occurs in patients after a subarachnoid hemorrhage, a type of brain bleed that is usually caused by a ruptured aneurysm.  Up to 75% of patients surviving a subarachnoid hemorrhage go on to develop cerebral vasospasm, however only 30% of these are symptomatic in the form of brain deficits. 

Typically, the patients present with symptoms 3 to 14 days after the initial subarachnoid hemorrhage but it can occur up to 3 weeks with the greatest risk at 7 days.  To diagnose cerebral vasospasm, a physician may use transcranial dopplers, CT-angiography, MR-angiography, or may obtain a cerebral angiogram.  Although the direct cause of the disease is largely unknown, it is thought that is caused by an imbalance in the chemicals that cause vasoconstriction (blood vessel narrowing) and vasodilation (blood vessel widening).   Most patients with subarachnoid hemorrhages are given drugs to prevent strokes from cerebral vasospasm.  Once the disease is diagnosed, the treatment options elevation of blood pressure to force blood perfusion to the brain, and/or treatment through angiography.  Through angiography, a physician can deliver medicine to the arteries, and/or use balloon angioplasty to dilate the arteries, depending on the severity and location of the vasospasm.

Kevin White, Justin F. Fraser, MD

References:

Goldman. (2011).  Goldman’s Cecil Medicine, 24th ed. Sanders.  Philadelphia: PA.

Bradley, (2008) Neurology in Clinical Practice, 5th ed.  Butterworth-Heinemann, Philadelphia: PA.

CT scanning is an imaging method commonly used in neurosurgery and neurology to obtain high resolution images of both the bone structure and soft tissue of the head, neck, and spine.  When preparing for a CT scan, a patient will be asked to remove all jewelry and dress in a hospital gown.  Depending on what part of the body is being examined, a contrast agent may be given.  A “contrast agent” is simply a non-painful medication, either taken by mouth or given with an IV, which will collect in areas of interest and allow them to be imaged more clearly.  The contrast agent is harmless to the individual and will be quickly excreted after the procedure. Once this agent is given the patient will be asked to lie down as they are passed through a large circular scanner that emits low dose X-rays.  

How Does It Work?

The X-rays will pass through the body and detectors, also located on the circular scanner, collect the X-rays as the patient moves through the circular opening.  This information is then given to a computer and processed into a series of 2-dimensional cross-sectional images (images that go from the front to back of the head).  In the images produced, bone will appear a bright white color and the brain itself will appear a gray color.  The CT scanner will take a number of images that start from the top of the head and work down as the patient is passed through the scanner.

Will It Hurt?

The actual imaging procedure is painless but may take several minutes to complete.  The typical scanning procedure is completed in five to ten minutes, depending on the amount of the body to be imaged.   During this time the patient will be asked to remain still, as movement during the process will cause the resultant image to be distorted, an event known as “motion artifact.”  This requirement may be difficult to achieve and cause some discomfort.  Patients that are claustrophobic and small children may require mild sedation to allow for adequate image clarity.

Why Should I Get One?

Your doctor may refer you for a CT scan for the following reasons.  Please note, this list is focused upon neurosurgical causes, and is not a complete list of uses for CT scanners.  Also, for more information please follow the links for information on the conditions listed.   

• Headaches

• Stroke

• Intracranial Aneurysms

• Brain tumor

• Brain abscess

• Hydrocephalus

• Head trauma and spine trauma 

Tim Horrell, Justin F. Fraser, MD

Definition:

A cranial gunshot wound is a penetrating wound through the skull caused by a firearm.  A wound in which the bullet enters the skull, but does not exit, is referred to as a penetrating wound.  A wound in which the bullet enters and exits the skull, is referred to as a perforating wound.  As a bullet passes through the brain, the bullet creates a hole 3-4 times larger than the original bullet diameter.  The path of the bullet and its pressure wave cause the majority of the damage in the brain.  

Treatment:

Cranial gunshot wounds are aggressively treated upon arrival to a hospital.  90% of the time, the victim of a cranial gunshot wound will die before arrival to the hospital.  For victims that survive the initial encounter, up to 50% may die in the emergency room.  

Once the patient’s blood pressure and oxygen levels are stabilized, a Computerized Tomography (CT) scan of the brain will provide an image of areas damaged from the gunshot wound.  Damage can be caused from the bullet entry, its pathway, bullet fragmentation, and its exit.  The caliber of the bullet, the weapon from which it was fired, as well as the distance between the gun and the victim, all play a role in the amount of damage caused in the patient.

If a hematoma (collection of clotted blood) is shown on the CT scan, an emergency craniotomy may be performed, where the skull is opened to remove the clotted blood.  It is also common for swelling of the brain to occur, and a craniectomy procedure may be performed in which a portion of the skull is temporarily removed until the swelling decreases.  Superificially accessible bullet fragments may be surgically removed, though deep fragments may be left behind, as surgical removal may cause more damage to the brain. 

Outcome:

If a patient survives the initial gunshot wound, the path of the bullet determines the extent of injury.  Outcome is worse for those with damage into the deep midline structures of the brain, or areas of the brainstem.

The patient will be most often be admitted to a critical care unit for several weeks after the trauma.  After that, the extent and speed of recovery is dependent on the amount of injuries and the general health of the patient prior to the incident.  Rehabilitation is often necessary to help regain some function, and most often, to adapt to permanent injuries.  Recovery could take from several months to several years, with many patients never reaching their baseline health prior to the injury. 

Jessica Siu and Justin F. Fraser, MD

References:

Hollerman JJ, Fackler ML. Chapter e263.1. Wound Ballistics. In: Tintinalli JE, Stapczynski JS, Cline DM, Ma OJ, Cydulka RK, Meckler GD, eds. Tintinalli's Emergency Medicine: A Comprehensive Study Guide. 7th ed. New York: McGraw-Hill; 2011. http://www.accessmedicine.com/content.aspx?aID=6369090. Accessed November 25, 2011.

Wright DW, Merck LH. Chapter 254. Head Trauma in Adults and Children. In: Tintinalli JE, Stapczynski JS, Cline DM, Ma OJ, Cydulka RK, Meckler GD, eds. Tintinalli's Emergency Medicine: A Comprehensive Study Guide. 7th ed. New York: McGraw-Hill; 2011. http://www.accessmedicine.com/content.aspx?aID=6388784. Accessed November 25, 2011.

Gunshot Wound Head Trauma.  American Association of Neurological Surgeons. 2011.  Available at:  http://www.aans.org/en/Patient%20Information/Conditions%20and%20Treatmen... Accessed Novermber 25, 2011.

Decompressive hemicraniectomy was first described in 1905 by Harvey Cushing. It is a surgical procedure that involves the removal of a portion of the skull in order to allow swelling brain tissue to expand outward through the artificial opening instead of compressing against the inside of the skull, thus preventing damage caused by brain compression.  This procedure can also refer to the removal of parts of contused hemorrhagic brain with the same intentions.  Hemicraniectomy prevents further brain injury by decreasing intracranial pressure (pressure inside the skull).

High intracranial pressure is dangerous because it causes the compression and subsequent death of brain tissue.  Increased pressure in the brain can also cause the brain to press down on the spinal cord, which can be fatal. Increased intracranial pressure can be caused by several conditions, including but not limited to stroke (bleeding inside the cranium), trauma (which causes brain swelling), and hemispheric encephalitis. For this procedure, which is performed under general anesthesia, the surgeon will remove a part of the skull and cut the dura mater, the tough outer layer of the meninges (protective tissues that cover the brain) to allow the brain to swell.

Katya Alimova and Justin F. Fraser, MD

A dural arteriovenous fistula (dAVF) is an abnormal direct connection, or shunt, between an artery and vein located in the covering of the brain or spinal cord (called the dura mater).  Dural AV fistulae represent only 10-15% of all AVMs, which are rare lesions. They may be congenital or may result from trauma or natural formation of new blood vessels in cases in which a major draining vein (or sinus) in the brain is blocked or clotted. 

Typical symptoms include headaches, ringing in the ears that beats with the heartbeat (called ‘pulsatile tinnitus’), and visual changes.  Cerebral angiography is the gold standard test for evaluating a dural AVF.  A dural AVF is classified by how the artery drains into one or more veins.  If there is high pressure in the fistula, flow in the vein may backup, and become dangerous, as such high-pressure could result in bleeding.  It is recommended that a dural AVF be treated if it is causing refractory or intolerable symptoms, if it results in a neurologic deficit, or if it has bled or is at significant risk of bleeding.

Most dural AV fistulae are treated endovascularly by injecting glue-like substances (a process called ‘embolization’) through a small tube, or microcatheter, that is guided into the vessel from an artery puncture site (typically in the groin).  In rare cases, if treatment cannot be achieved with endovascular methods alone, open surgery may be required.  There are some dural AV fistulae that may be treated successfully with radiosurgery as well.

Justin F. Fraser, MD

Dural sinus thrombosis (DST) is a condition where a blood clot forms in one of the dural sinuses. The dural sinuses are located in your head. They drain deoxygenated blood as well as cerebropsinal fluid (CSF) that surrounds your brain, and empties them into the internal jugular vein that takes it back to your heart and lungs to be re-oxygenated. They are called venous sinuses instead of regular veins because they are larger in size and have a more hollowed out cavity to hold the blood and CSF.

Just as blood clots can form elsewhere in the body, such as in the arteries of the brain (which is called a stroke), or in the deep veins of the legs (which is called a deep venous thrombosis or DVT), blood clots can also form in the dural sinuses of the head. The conditions that predispose a person to stroke and DVTs can also lead to DST. These conditions can include: infection, pregnancy (postpartum), oral contraceptives, dehydration and extreme malnourishment, cardiac disease, ulcerative colitis, sickle cell trait, trauma, postoperatively, malignant tumors, hypercoagulable blood disorder (e.g. lupus), and diabetes mellitus.

When there is slow blood flow in the veins the blood tends to clot just as it would when you cut yourself. But instead this is within the blood vessel. When a blood clot forms it can block the blood flow. If the outflow is blocked then the blood backs up and slows down the blood coming in. This creates an enlargement of the dural sinus. It can result in a stroke, brain swelling, and brain hemorrhage.

Symptoms can include headache, nausea, vomiting, seizures, numbness/weakness, blurred vision, confusion.  If severe, it may cause coma and death.  It may often be diagnosed through special types of CT scans or MRI.  Angiography is occasionally indicated for evaluation.  Laboratory tests may be necessary to determine the cause of the thrombosis.

Treatment needs to be started quickly to prevent damage to the brain. The underlying cause is treated if known.  Treatment of the thrombosis most often requires a blood thinner, such as heparin or Coumadin.  In extremely rare and severe cases, a 'clot buster', such as tPA, can be used to dissolve the clot by directly administering it to the clot through a catheter guided into the veins of the brain. Hypertension and any seizures are closely controlled with medication. Brain swelling, if severe, may require a procedure such as ventriculostomy or craniotomy to relieve the pressure. 

Lindsey Parker PA-C and Justin F. Fraser M.D.

The electroencephalogram (EEG) is the most common test for the evaluation of seizures and epilepsy. It records the electrical activity of the brain. It is a safe and painless procedure. Routinely the EEG is run for 20 to 30 minutes.

The EEG technologist first measures the patient’s head so that the electrodes can be placed in the correct position. The electrodes are small disks attached to wires. They help record the brain waves. A wax crayon, which is easily washed off, is used to mark the scalp. The technologist scrubs each position on the scalp with a sand-like cream before applying the electrodes. The technologist then applies the electrodes, using a paste that holds them in place for the test.

During the EEG, the technologist will ask patients to open and close their eyes. The technologist may shine flashing lights into the patients eyes (photic stimulation), or may ask them to breathe deeply and rapidly (hyperventilation). These provocative methods may induce certain EEG patterns in special populations and help screen for certain types of epilepsy. The patient may fall asleep briefly during a routine EEG.

In some cases, patients are asked by their doctor to stay up the entire night before the EEG is performed. This sleep deprivation can increase the likelihood that abnormal waves will be recorded. If the patient experiences any possible seizure symptoms during the test, he or she should tell the technologist.

Patients who are pregnant or have a medical problem, such as asthma, heart disease or a recent stroke should tell the EEG technologist at the start of the EEG.

Obtaining an EEG in certain populations or young children can pose significant challenges. For babies, it is helpful to perform the EEG around naptime, preferably after feeding. Electrodes can be applied while the mother holds the child; a bottle may help to calm the baby.

Meriem K. Bensalem-Owen, MD

An epidural hematoma is a collection of blood or a blood clot between the skull and the dura, the lining of the brain. It is usually caused by trauma that disrupts the blood vessels outside of the brain. It accounts for 1% of all head trauma and occurs 4 times more in males than in females. It most typically occurs in young adults.

Signs and symptoms can include loss of consciousness, history of trauma, a unilateral paralysis or numbness, unilateral pupil dilation, headache, nausea, vomiting, seizures, slow heart beat, confusion, and even coma. These all depend on the pressure the blood clot places on the brain as well as the amount of brain injury of any.

Epidural hematomas are most often diagnosed by CT scan of the head.  A little less than half occur without associated skull fracture.

Treatment is depends on the size and timing of the hemorrhage.  In cases of very small hematomas with no pressure on the brain, they may be followed on repeat CTscans.  However, in the case of significant hematomas or in a patient with a deteriorating neurological exam, they may require surgical removal by a neurosurgeon.

Lindsey Parker PA-C and Justin F. Fraser M.D.

An Ethesioneuroblastoma is a slow growing malignant tumor in the back of the nasal cavity. It is named based on the origin of the tumor cells. “Ethesio” refers to the olfactory epithelial cells. Olfaction is the sense of smell. A neuroblastoma refers to stem cells or origin cells that in this case, give rise to the cells that are responsible for the sense of smell.

It is outside the brain but can invade the brain tissue.  Typical presentation peaks at ages 30 and 60. Signs and symptoms can include recurrent nose bleeds, nasal obstructions, tearing of the eyes, pain, double vision, bulging of the eyes, inability to smell, and possible endocrine dysfunction associated with invasion into the brain affecting the pituitary gland.

Radiographic diagnosis is made with CT and MRI.  Treatment includes surgical removal, followed by radiation and chemotherapy. Surgery is often performed by a skull base surgery team, that includes an ENT surgeon and a neurosurgeon. 

Lindsey Parker PA-C and Justin F. Fraser M.D.

Fibrous Dysplasia is a benign condition of abnormal development where normal bone is replaced by fibrous connective tissue. As a result, the bone thins and becomes weak. In your body there are cells that constantly remodel your bones. These cells are called osteoblasts and osteoclasts. In the cartilage, there are cells called chondrocytes that build the cartilage and connective tissue and even scar tissue. In fibrous dysplasia, these cells do not function correctly.

This condition is not inherited. It can involve a single bone or multiple bones. It can occur in craniofacial bones mostly the maxilla, or in the ribs. It can be asymptomatic, or it may involve local pain and swelling or even deformity. This can cause ‘pathologic’ fractures. Depending on the location relative to the skull base, it may involve the cranial nerves.  Other signs/symptoms of cranial involvement include seizures, scalp bleeding, and darkened hair over the area. ‘

Diagnosis can be made X-ray, CT, or MRI. The lesions appear as ground glass, or thinly woven bone, where normal bone should be. While there is no definitive cure, local pain and deformity may be managed surgically.  In the case of skull involvement with compression of skull base nerves, craniotomy may be performed to remove the abnormal bone. 

Lindsey Parker PA-C and Justin F. Fraser M.D.

Hemangioblastomas (HGB) are benign neoplasms of the vasculature of the central nervous system and retina.  HGB occur most commonly in the cerebellum (76%), but also may arise in the cerebral hemispheres, brainstem, spinal cord, or retina.  HGB occur slightly more frequently in males than females.  Approximately 20-25% of HGB occur as part of von Hippel-Lindau disease, though they also occur sporadically.  HGB associated with von Hippel-Lindau disease tend to be multiple, whereas sporadically occurring HGB are usually singular.  These tumors may be solid or cystic lesions, which will enhance with contrast on imaging.  

HGB may be symptomatic or asymptomatic.  Symptoms from lesions in the cerebellum and brainstem are typically caused by the tumor pushing on surrounding structures; these symptoms most commonly include: headache, nausea, vomiting, ataxia, pain, vertigo, diplopia, and nystagmus.  These tumors may also causehydrocephalus, which is an accumulation of cerebrospinal fluid in the brain, and may be life-threatening.  HGB of the spinal cord may cause weakness, loss of sensation, imbalance, and difficulty walking, as well as pain.  HGB of the retina (part of the eye) are often asymptomatic, but may present with primary visual disturbances and even blindness.

HGB may be evaluated using CT or MRI.  Occasionally, an angiogram is performed, especially when surgery is being considered for treatment.  Once a hemangioblastoma is discovered, additional scans may be necessary to determine if the patient has von Hippel-Lindau disease. 

In cases of sporadic HGB (not associated with von Hippel-Lindau disease), surgical treatment may be curative.  However, HGB may be located in inaccessible areas, rendering them dangerous to remove.  Because HGB are highly vascular tumors (containing many blood vessels), it is usually helpful to perform embolization prior to removal in order to reduce blood loss during surgery, which can make surgery safer and faster. 

Radiation may be helpful to reduce tumor size and slow growth.  This is typically used for patients that cannot undergo surgery for a variety of reasons including: the patient is a poor surgical candidate, the tumor in an inoperable location, or for multiple small deep lesions. 

Julie Kretzer and Justin F. Fraser, MD

References:

Baker, K, Moran, C, et al. MR imaging of spinal hemangioblastoma. American Journal of Roentgenology. 2000; 174:377-82
Hussein, M. Central nervous system capillary haemangioblastoma: the pathologist’s viewpoint. Int J Exp Path. 2007; 88: 311-24

Hydrocephalus literally means “fluid on the brain.” The brain sits within the skull and is surrounded by cerebrospinal fluid (CSF. CSF is produced by the “choroid plexus” within the brain. After it has circulated through the ventricles (fluid-filled cavities within the brain) it is reabsorbed into venous blood in the head where the CSF can be recycled. In hydrocephalus there is too much cerebrospinal fluid on the brain.

This can occur from a blockage of CSF drainage, known as obstructive hydrocephalus; or it can occur from a decreased CSF reabsorption or an overproduction of CSF, known as communicating hydrocephalus. Acquired hydrocephalus is reported to occur in 1-1.5% of the population. It can be congenital in 0.9-1.8/1000 births.

Acquired hydrocephalus can be a result of an infection involving the brain or brain coverings. It can also occur after a brain bleed such as a subarachnoid hemorrhage or an intraventricular hemorrhage. It can also result from a brain mass, or it can be a postoperative complication. 

The extra fluid on the brain causes pressure on the brain which leads to the symptoms. Symptoms can include headache, nausea and vomiting, difficulty walking, confusion, irritability, downward gaze, and lethargy.

Diagnosis is made by CT or MRI evaluating the ventricle size. Treatment is usually surgical. A spinal tap may be done prior to surgery for diagnosis and/or temporary treatment. Commonly, a ventriculoperitoneal shunt (VP shunt) is performed. In this procedure, a tube is placed in your body that drains CSF from inside the ventricle in your brain to the peritoneal cavity in your abdomen. This tube is tunneled under your skin from behind your ear to your belly. There are several other surgical options to treat hydrocephalus, but a VP shunt is most commonly used.  Increasingly, endoscopic third ventriculostomy is being performed for patients with obstructive hydrocephalus.

Lindsey Parker PA-C and Justin F. Fraser M.D.

An intracranial aneurysm is condition in which the wall of a small artery in the brain becomes weakened.  As it weakens, it stretches, and, in most cases, takes the shape similar to a balloon or sphere.  These occur in about 2 – 4% of the population.  The most common location for this type of aneurysm is in the base of the brain in the anterior communicating artery and the internal carotid artery. 

Most aneurysms cause no symptoms, and remain undetected.  The most common symptoms occur when the aneurysm ruptures (or bursts like the popping of a balloon) with often catastrophic consequences.   It is estimated that some 15 million Americans unknowingly live with this condition.  Ruptures occur randomly, though high blood pressure and smoking are known to increase the risk of rupture.  The symptoms of a rupture include severe headache (‘The worst headache of life’), nausea/vomiting, neck pain, and new neurologic deficits (including double vision, facial numbness or weakness).  Some patients become comatose when their aneurysm ruptures, while others may have seizures.

Intracranial aneurysms are diagnosed with imaging studies, usually CT or MRI. Rupturing of intracranial aneurysms account for 5 to 15% of all strokes.  Of these, 32 to 67% are fatal.  Other long-term complications include, excessive fluid on the brain in 12%, brain swelling in 12%, and seizures in 5%.  The most dangerous complication is recurrent bleeding, which occurs in 11% of survivors, and is fatal in 40 to 78% of cases. 

Physicians specially trained to treat aneurysms can discuss different types of treatments, including microsurgical clipping or endovascular coiling.  The type of treatment depends upon the aneurysm size, location, and shape, as well as the overall health of the patient. 

Kevin White, Justin F. Fraser, MD 

References:

Bradley, (2008) Neurology in Clinical Practice, 5th ed.  Butterworth-Heinemann, Philadelphia: PA.

Mettler, (2005): Essentials of Radiology, 2nd ed. Saunders, Philadelphia:PA.

Juvenile Nasopharyngeal Angiofibroma (JNA) is a relatively rare tumor of the nasopharynx, comprising only 0.5% of all head and neck tumors.  These tumors are benign, however they are locally invasive.  In the general population, JNA occurs at an incidence of roughly 1:150,000, however JNA predominately appears in males age 14-25.  Occasional cases of JNA in adolescent girls and men older than 25 have been reported, though these are rare.  Some patients appear to develop JNA as a manifestation of Familial Adenomatous Polyposis syndrome. 

These tumors most commonly begin in the upper posterior part of the nasal cavity, but may invade surrounding structures as they grow.  These tumors rarely cause symptoms until they have invaded surrounding structures.  Approximately 91% of patients with JNA present with nasal obstruction in one nostril.  Recurrent epistaxis (bleeding from the nose) is also common, occurring in 63% of patients.  Other signs and symptoms include: nasal discharge, pain, sinusitis, facial deformity, hearing impairment, otitis media (middle ear infections and inflammation), proptosis (bulging of the eyes out of the orbit), and diplopia (double vision).  Often, the patient will have the symptoms for about 6 months to a year before being diagnosed with JNA.    

CT and MRI scans are both important in evaluation and management of JNA.  CT provides information about the bones of the sinus cavity surrounding the tumor, while MRI is useful for understanding the tumor itself and surrounding important structures such as arteries and nerves.   

JNA may be followed by imaging the patient over time.  In some cases, no intervention may be indicated, as these tumors may decrease in size on their own.  In cases of continually growing tumors, tumors that are associated with significant symptoms, or tumors that invade critical structures, treatment may be indicated.  Surgical resection is the treatment of choice for JNA.  Surgery may be performed using 'open' techniques, which involve making incisions on the face or in the mouth to gain a wide route of access to the lesion.  However, newer techniques rely on the use of endoscopic approaches.  Endoscopic surgery involves using long cameras and instruments to operate through the notrils with no outer incisions.

Additional treatment tools include embolization, chemotherapy, and radiation.  Embolization is a technique where a small catheter is guided inside the blood vessel to the blood vessel supplying the tumor.  Liquid 'glue-like' substances are injected to block off the blood supply to the tumor.  This can make surgery to remove it shorter and safer.  Chemotherapy is useful as a secondary tool for the treatment of residual or recurrent disease.  Radiation therapy may be successful in controlling JNA growth in up to 85-91% of cases.  However, especially since these tumors are most typical in younger patients (in whom radiation should be avoided when possible), surgery remains the treatment of choice. 

Julie Kretzer and Justin F. Fraser, MD

References:
Blount, A, Riley, K, Woodworth, B. Juvenile nasopharyngeal angiofibroma. Otolaryngol Clin N Am. 2011; 44:989-1004
Myers, J. Genetic alterations in juvenile nasopharyngeal angiofibromas. Head & Neck. 2008; 30:390-400
Scholtz, A, Appenroth, E, et al. Juvenile nasopharyngeal angiofibroma: management and therapy. The Laryngoscope. 2001; 111:681-87

Moyamoya disease was first described in 1957 in Japan and is more prevalent in Asian cultures. Annually, moyamoya will affect anywhere from 0.35 to 0.94 per 100,000 people. Generally, moyamoya is thought to have a “bimodal” distribution whereby it mainly affects people either in their first (childhood moyamoya) or fourth decades of life (adult moyamoya). Moreover, it is associated with 6% of childhood strokes and carries a 10% occurrence between family members.  As such, genetic inheritance may play a role in the disease.

It is characterized by the narrowing of the internal carotid arteries which constitute a significant source of blood flow to the brain. With age, this reduction of blood flow to the brain leads to establishment of a series of smaller blood vessels (“moyamoya vessels”) at the base of the brain to provide alternate circulation to the brain. Moyamoya vessels are at risk of rupturing and so adult moyamoya is often characterized by bleeding into the brain. Childhood moyamoya is characterized by a lack of blood flow to brain tissues, resulting in strokes.  However, both strokes and hemorrhages can occur in children and adults. 

There is no one optimal treatment for moyamoya. Generally, drug therapy with corticosteroids, calcium-channel blockers, blood thinners, and vasodilators has had some success. Surgical options are largely referred to as “revascularization” procedures whereby the narrowing or blockage of the internal carotid arteries due to moyamoya is bypassed. Treatment will depend on your particular case and will be determined by your doctor.

George Goshua and Justin F. Fraser, MD

References:

Baba, T., Houkin, K., Kuroda, S. (2008). Novel epidemiological features of moyamoya disease. 

Journal of Neurology, Neurosurgery, and Psychiatry, 79(8), 900.

Biller, J., Love, B.B., Schenck, M.J. (2008). Ischemic Cerebrovascular Disease. In: Neurology in 
         Clinical Practice. Bradley, W.G., Daroff, R.B., Fenichel, G.M., & Jankovic, J., 5th ed.

A pituitary adenoma is a brain tumor that arises from the pituitary gland, which is located at the base of the brain, deep to the nasal cavity, and between the nerves that transmit information from the eyes to the brain.  The pituitary gland emits hormones (messenger proteins that tell specific parts of the body to increase or decrease their function); it controls the other glands in the body.  An adenoma in this location may disrupt the function of these chemical messengers, resulting in specific symptoms.  Pituitary tumors represent 10% of all tumors in the brain. 

Symptoms from a pituitary tumor vary, and depend upon its size, as well as whether the tumor itself produces hormones.  Symptoms may include enlargement of the breast tissue with production of milk, prevention or cessation of the menstrual cycle in a female, abnormal growth of the body (including the hands and face), gigantism, loss of sex drive, infertility, malfunction of regulation of salt and water excretion from the kidneys.  If the tumor becomes large enough, it may compress the optic nerves that transmit information from the eyes to the brain; in such cases, a patient may experience loss of parts of their peripheral vision as well as decreased visual acuity. 

Occasionally, a pituitary adenoma may bleed or enlarge quickly.  In such cases, vision may decrease significantly and rapidly.  Such an event represents an emergency, and the patient should seek medical attention immediately.

Pituitary adenomas are best evaluated on MRI, but may also be appreciated on CT.  On rare occasions, angiography is used to differentiate a bleeding tumor from an intracranial aneurysm.  Certain medications may be used to treat and shrink the tumor, especially if it makes certain hormones.  However, surgical resection is often used to provide a diagnosis and to excise the tumor.  Resection is most commonly performed through the nasal passages using long telescopes, called endoscopes, to see into the back of the nasal cavity.  Radiosurgery may also be used if the tumor encases vital structures. 

Justin F. Fraser, MD

Progressive supranuclear palsy is a degenerative disease of the brain in specific areas. Sometimes it is referred to as Parkinsons Disases Plus Disorder. The average age of onset is 60 years old, but it can occur in 40year olds and older. It may have a slight dominance in males versus females.

It is characterized by paralysis of the eyes in vertical gaze - either they cannot look up or they cannot look down. Patients have expressionless faces as if they were wearing a mask. They have trouble articulating what they mean, trouble with the content of their speech, some hyperactive jaw jerking, and possibly a lack of emotional control. They may walk with instability and have a stiff neck. Dementia may also be present. It differs from Parkinsons disease in that patients walk straight and are not bent over, there is no tremor, and they tend to fall backwards. 

Patients with this disorder tend to have many falls. The inability to adjust vertical gaze makes falls for frequent. Their speech is slurred, and they have difficulty eating.  They may exhibit personality changes.

Diagnosis is made by clinical features on examination.  Treatment is with a multidisciplinary approach, involving many doctors working as a team to best treat each patient. 

Lindsey Parker, PA-C and Justin F. Fraser, MD

A Rathke's cleft cyst is a benign lesion near the pituitary gland in the brain. During development of the pituitary gland the Rathke’s pouch forms. Then the anterior pouch wall thickens to form the anterior pituitary lobe. A Rathke's cleft cyst is thought to come from the remains of the Rathke’s pouch. The pituitary gland sits in a little saddle shaped spot, known as the “sella turcica” at the base of the skull. This literally means “Turkish saddle,” as it is shaped as such. A Rathke’s cleft cyst is also located in this sella turcica as well; it is “intrasellar.” The remains of the pouch form a thin-walled cyst filled with a substance that resembles motor oil.

It is mostly asymptomatic unless it becomes large and presses on the surrounding structures. It can press on the pituitary gland affecting the hormone production. It can also compress the optic nerves resulting in some visual disturbances, such as tunnel vision or decreased peripheral vision. 

A CT or MRI scan are used to visualize the lesion. Because it is so close to the pituitary gland it is often hard to diagnose just from a CT or MRI scan. If the Rathke's cleft cyst is symptomatic or suspicious for something else, treatment is often a partial excision and drainage of the cyst with biopsy. This can be done in the same manner that a pituitary tumor is removed: by a transsphenoidal resection. This is where the cyst or lesion is accessed through the nose, and removed. Depending on the location and the individual anatomy, it may also be accessed through a craniotomy.

Lindsey Parker PA-C and Justin F. Fraser M.D.

“Sciatica” refers to symptoms related to compression of the sciatic nerve.  The sciatic nerve is a collection of several nerve roots; the nerve roots come off the spinal cord in the low back.  Once the nerve roots leave the spinal canal, they gather together as the sciatic nerve and travel through the buttock, down the back of the leg and into the foot.  The sciatic nerve carries muscle (motor) and feeling (sensory) information to and from the central nervous system.  

Symptoms or problems associated with nerve compression can include pain, numbness, tingling, and/or weakness in the region, and in rare cases problems with controlling bowels or bladder.   Any of these symptoms can come on suddenly, or slowly over time.  

Common causes for “sciatica” include things that cause pressure on the nerve roots within the spinal column (also known as radiculopathy) and things that cause pressure on the nerve after it has left the spine (also known as neuropathy): a slipped disk (aka herniated disk), spinal stenosis (aka narrowing), spinal instability, narrowing of muscles in the buttocks (aka piriformis syndrome), or pelvic injury.  

Treatment largely includes brief bed rest (1-3 days) and medical management (spinal conditioning for most, sometime medications, sometimes physical therapy).  Some will find benefit with pain management specialists.  Some cases require surgery to correct the compressed area of the nerve.  These procedures for decompression of nerve root(s) include laminectomy (removal of part of the bone), and/or microdiscectomy (removal of the disk) causing the compression.

Kevin White, Karin Swartz, MD

References

Medical Reference (2011).  University of Maryland Medical Center, Baltimore MD

Oxford Medical Dictionary, 2009

Scoliosis is a condition characterized by the abnormal curvature of the back.  Complications of this condition include nerve or spinal cord compression (with possible pain, numbness, tingling, weakness resulting), bone degeneration and abnormal cerebrospinal fluid circulation around the spinal cord.  In extreme cases of severe abnormal curves, the organs in the thoracic (chest) cavity, heart and lungs, may have compromised function.  Scoliosis is divided into four major categories: infantile idiopathic scoliosis, juvenile idiopathic scoliosis, adolescent idiopathic scoliosis, and acquired/degenerative scoliosis.  

"Infantile idiopathic scoliosis" refers to scoliosis presenting in patients less than three years of age and accounts for 2-3% of all cases.   Most of these cases are boys, and presenting with a thoracic curvature to the left.  70 to 90% of these cases resolve spontaneously without medical intervention.  If treatment is required it is often in the form of casting followed by traction and surgical fusion.

"Juvenile idiopathic scoliosis" refers to scoliosis presenting in patients between the ages of four to nine and accounts for about 15% of all cases.  Most of these cases present in girls, and is six times more likely to be a right curvature.  Natural resolution of scoliosis occurs in 20% of patients.

"Adolescent idiopathic scoliosis" refers to scoliosis presenting in patients between the ages of 10 to 20 and accounts for about 85% of all cases.  Like juvenile idiopathic scoliosis, adolescent idiopathic scoliosis presents mostly in girls and is 8 times more likely to be curvature to the right.  Surgical correction is usually required for problematic cases, as natural resolution is rare.

"Acquired Scoliosis"/"Degenerative Scoliosis" refers to the abnormal curves typically presenting in adults, men and women.  It is commonly related to wear-and-tear changs of the body over a life time of experiences, and/or can be related to trauma with fractures of the spine.  Some cases will require surgery, especially those with rapid change in the curve or compression of neurologic structures (nerve roots or spinal cord).           

Kevin White, Karin Swartz, MD

References:

Canale and Beauty, (2007).  Campbell’s Operative Orthopaedicsi (11ed).  Mosby.  Philadelphia, PA.

Ferri, (2011). Ferri’s Clinical Advisior 2012 (1st ed). Mosby. Philadelphia, PA.

Frontera, (2008).  Essentials of Physical Medicine and Rehabilitation (2nd ed.). Saunders. St. Louis, MO.

Transverse Myelitis is a pathologic inflammatory condition of the spinal cord in a transverse fashion, which means it affects the spinal cord in levels that correspond to the vertebrae as opposed to affecting the spinal cord in a lengthwise fashion.

Transverse myelitis typically occurs between the ages of 15 and 55 years.  It may occur after an infection, or may present spontaneously.

Signs and symptoms include pain in the back, sometimes radiating pain down the legs or arms, muscle weakness, sensory deficits, numbness, tingling, fever, rash, neck pain and stiffness, urinary retention, urinary hesitation, or urinary overflow incontinence. There is usually a rapid progression of symptoms, reaching its maximum at about 24 hours after onset. It can affect all levels of the spinal cord, but is most common in the thoracic area.

CT, Myelogram, and MRI usually do not show anything specific to this diagnosis. However, special MRI sequences may be able to show inflammatory changes in the spinal cord. Treatment is based on the cause of the inflammation. Temporary treatment with steroids is often used to reduce inflammation.

Lindsey Parker, PA-C and Justin F. Fraser, MD

Resources:

Rengachary, S. Ellenbogen, R. (2005) Principles of Neurosurgery, 2nd edition. Elsevier Mosby, New York: NY

Trigeminal neuralgia affects an estimated 4.5 per 100,000 individuals every year. It is characterized by sudden, violent, and often excruciating outbursts of facial pain. These are referred to as ‘paroxysms’ and are often triggered by common daily tasks. These include actions like washing your face and brushing your teeth. Likewise, these can be triggered by simple actions like chewing or smiling.

Trigeminal neuralgia is typically caused by compression or infection of one of the divisions of the trigeminal nerve. The trigeminal nerve is located at the base of the brain, and is responsible for feelings of sensation from the different parts of the face. The first option of treatment is drug therapy. Typical drugs include carbamazepine, oxcarbazepine, baclofen, lamotrigine, pimozide, and phenytoin. The appropriate medicine will be determined by your doctor. 

If drug therapy fails, surgical intervention is an option. Microvascular decompression is a procedure that attempts to relieve pressure on the trigeminal nerve. Other surgical options are targeted towards severing the problematic nerve(s) and include radiofrequency thermal rhizotomy, gamma knife radiosurgery, and peripheral neurectomy.

George Goshua, Justin F. Fraser, MD

References:

Beal, M.F., Hauser, S.L. (2011). Trigeminal Neuralgia, Bell’s Palsy and Other Cranial Nerve 
Disorders. In: Harrison’s Principles of Internal Medicine. Longo, D.L., Fauci, A.S., 
Kasper, D.L., Hauser, S.L., & Jameson, J.L., 18th ed.

Tuberous Sclerosis literally means “hard swelling.” It is also known as Bourneville’s Disease. It is a neurocutaneous genetic disorder (meaning it has features that affect the skin and the nervous system) that is characterized by nodules that can be found mainly in the skin, brain, eyes, or kidneys. These nodules are sometimes referred to as hamartomas, which are benign malformations of normal tissue. These nodules are usually calcified and can be disfiguring. Tuberous Sclerosis is found in 1 in 6,000 to 10,000 live births. It is inherited as an autosomal dominant trait. It can also occur by spontaneous genetic mutation.

The signs and symptoms associated with tuberous sclerosis are mainly due to the location of the nodules. The classic signs and symptoms are seizures, mental retardation, and sebaceous adenomas. Other signs and symptoms include calcified brain lesions, hydrocephalus, and subependymal nodules.

Diagnosis is based on location and number of nodules. This is assessed with plain X-ray and/or CT scans.

The goal of treatment is control of symptoms rather than cure, as it is genetic. Seizures are controlled with anti-epileptic medication. Surgical resection is limited to those who have uncontrolled symptoms. 

Patients with tuberous sclerosis are prone to develop a particular type of brain tumor called a subependymal giant cell astrocytoma (SEGA). 

Lindsey Parker, PA-C and Justin F. Fraser, MD

Ventriculostomy is also called ventricular catherization with an intraventricular catheter (IVC) or external ventricular drainage (EVD).  It is a surgical procedure that involves the placement of a catheter connecting the ventricles of the brain to an external collecting device.  The ventricles are the four spaces inside the brain that contain cerebrospinal fluid (CSF), which is necessary for supporting and nourishing the brain. The fluid circulates through the ventricles and around the spinal cord under normal circumstances.  This normal circulation may become blocked, causing hydrocephalus (excess CSF), which can cause brain compression due to the limited space inside the cranial cavity.  In order to remove excess CSF, a catheter will be placed inside one ventricle leading to a collection device located outside the cranial cavity. Ventriculostomy may be performed in cases where there is bleeding into the ventricles, which may also block the circulation of the cerebrospinal fluid, or when the pressure inside the skull (intracranial pressure) is elevated after traumatic brain injury. As part of the operation the surgeon will shave the side of the head on which the catheter will be inserted, usually the right side, and insert the catheter perpendicular to the brain surface, about 5-7 centimeters deep.  The placement of the catheter may be temporary if the cause can be resolved.  In cases where external drainage is permanently necessary, a ventriculostomy may be converted to a ventriculo-peritoneal shunt or other internalized shunt.  The risks of the procedure are small, but include infection of the cerebrospinal fluid and brain hemorrhage.

The vein of Galen is located deep inside the brain. It is also called the great cerebral vein. It drains the blood from the brain into the venous system to carry back to the heart. Sometimes a malformation may form during the development of this venous system in the fetus prior to birth.  This results in an enlarged vein that receives high-flow blood directly from some to the arteries in the brain.  It usually occurs either congenitally (from birth) or as a result of another anomaly within the brain such as another arteriovenous malformation (AVM) or an arteriovenous fistula (AVF).

In children, vain of Galen malformations are usually congenital. In these cases it is also associated with other medical problems. As a result of the high blood flow in the brain, newborns may develop congestive heart failure and hydrocephalus (fluid on the brain). In adults, this usually presents with a brain bleed or some neurologic deficit such as extremity weakness or a focal paralysis.

Decisions regarding treatment are best discussed with a cerebrovascular neurosurgeon.  Depending upon the size, age of the patient, presence of congestive heart failure, and type of arterial connections, treatment may be advised.  Typically, these lesions are treated endovascularly (from within the blood vessels) by blocking the connections between the arteries and the venous malformation. 

Lindsey Parker PA-C and Justin F. Fraser M.D.