Basilar Invagination

Basilar invagination is a serious structural abnormality where the upper part of the spine, specifically the odontoid process of the second cervical vertebra (C2), moves upward and presses into the base of the skull (the foramen magnum). This condition can compress the brainstem, spinal cord, and nearby nerves, leading to a range of neurological symptoms. Basilar invagination is often associated with congenital conditions like Chiari malformation or connective tissue disorders such as rheumatoid arthritis, but it can also develop due to trauma or bone diseases.

Symptoms depend on the degree of compression and may include neck pain, headaches, dizziness, difficulty swallowing, stiff neck, weakness, or issues with coordination and balance. In severe cases, it can result in life-threatening complications by impairing vital functions controlled by the brainstem. Diagnostic imaging is required and includes x-rays to reveal upward displacement of the odontoid process, MRI to provide detailed images of the brainstem and spinal cord to assess compression and CT scan to help visualize bony abnormalities and measure invagination severity.

Treatment usually involves surgery to stabilize the spine and decompress the brainstem. Surgeons will remove bone or tissue compressing the brainstem or spinal cord and sometimes perform a fusion to reinforce the spine using rods, screws, or bone grafts. In severe cases, an occipitocervical fusion may be used to stabilize the junction between the skull and cervical spine.

Basilar invagination often coexists with conditions like Chiari malformation, syringomyelia, or connective tissue disorders. With timely treatment, many individuals experience symptom relief and improved quality of life. Severe, untreated cases can lead to progressive neurological decline, disability, or life-threatening complications, such as brainstem compression affecting vital functions. Recognizing and addressing this abnormality can prevent further complications, improve outcomes and enhance overall care for individuals with related disorders.

For more information, view our videos about basilar invagination:

Recent Advances & Endoscopic Techniques for Basilar Invagination in Chiari – Vijay Patel, MD

Cranial Cervical Instability

Cranial Cervical Instability (CCI) is a condition where there is excessive movement or instability at the junction between the skull (cranium) and the cervical spine (upper neck). This instability can put pressure on the brainstem, spinal cord, and nearby nerves, leading to a variety of symptoms that can significantly impact quality of life. These symptoms may include headaches, often at the base of the skull; difficulty swallowing or speaking; numbness, tingling or weakness in the limbs; visual disturbances or ringing in the ears.

CCI can be caused by connective tissue disorders, such as Ehlers-Danlos Syndrome (EDS), trauma, degenerative changes or congenital abnormalities. Since CCI can mimic other conditions and its symptoms vary widely, it is often misdiagnosed. A correct diagnosis is essential to manage the condition effectively and prevent complications. A combination of imaging studies such as X-rays, MRI or CT scans is used to assess the alignment and stability of the cervical spine. Flexion-extension imaging may reveal abnormal movement, and clinical evaluation and history are also critical in diagnosing CCI.

For more information, view our videos about CCI:

• Diagnosis, Radiological Criteria & Treatment of Chronic Craniocervical Instability – Fraser Henderson MD
• Craniocervical Instability – Paolo Bolognese, MD
• Craniocervical Fusions: Revisions – Paolo Bolognese, MD

Dilated Central Canal

A dilated central canal, also known as hydromyelia, refers to an abnormal widening or enlargement of the central canal of the spinal cord. This can create a cavity within the spinal cord, leading to pressure on surrounding neural tissue. The central canal is a small, fluid-filled channel that runs through the length of the spinal cord and is part of the central nervous system. While a dilated central canal is sometimes a normal developmental variant in children, in adults, it may signal an underlying issue.

Learn more about dilated central canal here.

Dysautonomia

Dysautonomia is a term used to describe a group of medical conditions that result from a malfunction of the autonomic nervous system (ANS). The ANS controls involuntary bodily functions, such as heart rate, blood pressure, digestion, temperature regulation, and breathing. When the ANS is disrupted, these functions can become dysregulated, leading to a wide range of symptoms. Symptoms vary widely depending on the type and severity but may include rapid heart rate (tachycardia), low blood pressure (hypotension), fainting, palpitations, dizziness, headaches, brain fog, nausea, bloating, diarrhea, constipation, difficulty swallowing, exercise intolerance, temperature regulation issues, excessive sweating or lack of sweating.

Types of dysautonomia:

• Postural Orthostatic Tachycardia Syndrome (POTS): A condition characterized by an excessive heart rate increase upon standing, often accompanied by dizziness, fatigue, and brain fog.
• Neurocardiogenic Syncope (NCS): Causes fainting due to a sudden drop in blood pressure and heart rate, often triggered by prolonged standing or stress.
• Multiple System Atrophy (MSA): A rare, progressive neurodegenerative disorder that affects autonomic and motor functions.
• Familial Dysautonomia (FD): A genetic form of dysautonomia that primarily affects individuals of Ashkenazi Jewish descent, impairing sensory and autonomic functions.
• Autonomic Neuropathy: Often secondary to conditions like diabetes or autoimmune diseases, it involves nerve damage that affects autonomic functions.

Dysautonomia can arise from various conditions, including chronic illnesses like diabetes, lupus, or Parkinson’s disease; viral infections such as Epstein-Barr virus or COVID-19; and genetic disorders like familial dysautonomia. It may also result from physical trauma, surgery, prolonged bed rest, or connective tissue disorders like Ehlers-Danlos Syndrome. Understanding these underlying causes is essential for accurate diagnosis and treatment.

Identifying dysautonomia involves a detailed clinical evaluation, patient history, and specialized tests such as tilt table tests, autonomic reflex testing, heart rate variability analysis, or sweat tests. Doctors must also rule out other conditions that may mimic its symptoms to confirm the diagnosis.

Dysautonomia can range from mild to severe, and its impact on daily life varies for each individual. While there is no universal cure, symptoms of dysautonomia can often be managed. Lifestyle changes, such as staying hydrated, increasing salt intake (if recommended), wearing compression garments, and following a structured exercise program, can help. Medications may be used to regulate blood pressure or heart rate, and dietary adjustments, such as eating small, frequent meals, may reduce symptom triggers. Supportive therapies, including physical therapy, occupational therapy, and mental health support, are also valuable in improving quality of life.

For more information, view our videos about dysautonomia

• The Pentad Patient – Ilene S Ruhoy, MD
• Orthostatic Dizziness, POTS & Dysautonomia – Safwan Jaradeh, MD

Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that affect the structure and function of collagen, a protein that provides strength and elasticity to the skin, joints, blood vessels, and other tissues. People with EDS often have overly flexible joints (joint hypermobility), stretchy or fragile skin, and a tendency to bruise easily. There are several types of EDS, ranging from mild to severe, with the most common being the hypermobile type. More severe forms, such as the vascular type, can affect internal organs and blood vessels, leading to life-threatening complications.

Learn more about EDS and view related videos here.

Hydrocephalus

Hydrocephalus is a medical condition in which an abnormal accumulation of cerebrospinal fluid (CSF) occurs within the ventricles (cavities) of the brain. This leads to increased pressure on brain tissues, which can cause a variety of symptoms depending on the age of the person and the severity of the condition. Hydrocephalus can be congenital (present at birth) or acquired later in life due to injury, infection, tumors, subarachnoid hemorrhage, or other neurological conditions.

Symptoms vary by age and the severity of the condition. In infants, symptoms can include an abnormally large head, rapid head growth, irritability, seizures and developmental delays. In adults, it can cause headaches (often worse in the morning), nausea, blurred vision, urinary incontinence, balance issues, difficulty walking and cognitive difficulties.

Types of Hydrocephalus include:

• Acquired Hydrocephalus: Develops after birth and can result from head injury, infections (e.g., meningitis), tumors, or bleeding in the brain.
• Communicating Hydrocephalus: Occurs when CSF flows freely within the brain’s ventricles but is not properly absorbed into the bloodstream.
• Non-communicating (Obstructive) Hydrocephalus: Caused by a blockage that prevents CSF from flowing between ventricles.
• Normal Pressure Hydrocephalus (NPH): Affects older adults and is characterized by normal CSF pressure but an enlargement of the ventricles. Symptoms often mimic other conditions like dementia.

Hydrocephalus requires prompt treatment to prevent complications. Treatment typically involves surgically inserting a shunt to drain the excess fluid and relieve pressure on the brain. The shunt system is a tube implanted to divert excess CSF to another part of the body (e.g., abdomen or heart) for absorption. In some cases, a procedure called endoscopic third ventriculostomy (ETV) to create an alternative pathway for CSF drainage.

Hydrocephalus management requires a multidisciplinary approach, including neurology, neurosurgery, and rehabilitation specialists. With timely treatment, many individuals with hydrocephalus lead normal lives. Patients will require follow-up care to adjust shunt systems if needed or monitor for complications.

• Hydrocephalus and CSF Shunts – Bermans Iskandar, MD

ICP (Intracranial Hypertension, Pseudotumor Cerebri)

Pseudotumor cerebri, also known as idiopathic intracranial hypertension (IIH), is a condition in which the pressure inside the skull increases without the presence of a tumor or other obvious cause. Despite its name, it mimics the symptoms of a brain tumor but does not involve an actual mass.

Increased intracranial pressure can be due to a rise in cerebrospinal fluid pressure. It can also be due to increased pressure within the brain matter caused by a mass (such as a tumor), bleeding into the brain or fluid around the brain, or swelling within the brain matter itself. An increase in intracranial pressure is a serious medical problem. The pressure itself can damage the brain or spinal cord by pressing on important brain structures and by restricting blood flow into the brain.

Key Features:

• Symptoms: Common symptoms include headaches, vision problems (such as blurred vision, double vision, or temporary vision loss), ringing in the ears (often pulsatile tinnitus), nausea, and dizziness.
• Causes: Many conditions can increase intracranial pressure. The exact cause is not well understood, but it is often linked to issues with the absorption of cerebrospinal fluid (CSF), leading to increased intracranial pressure. Risk factors include obesity, hormonal imbalances, certain medications (like tetracycline or retinoids), and sometimes underlying conditions.
• Diagnosis: Diagnosis typically involves imaging tests (MRI or CT scan) to rule out other causes, a lumbar puncture to measure CSF pressure, and an eye exam to check for optic nerve swelling (papilledema).

For more information, view our videos about intracranial hypertension:

• Intracranial Hypertension (Pseudotumor) & Innovative Medical Trials – Alexa Bramall, MD
• Cerebrospinal Fluid (CSF) Pressure Disorders – Linda Gray, MD
• ASAP CSF Disorders Related to Chiari I Malformations – Herbert Fuchs, MD

Intracranial hypotension

Intracranial hypotension is a condition characterized by abnormally low cerebrospinal fluid (CSF) pressure inside the skull, typically caused by a CSF leak or insufficient CSF production. CSF serves a critical role in cushioning and protecting the brain and spinal cord. When the pressure drops, it often leads to severe, positional headaches that worsen when standing or sitting upright and improve when lying down.

The most common cause of intracranial hypotension is a CSF leak, which may occur due to weaknesses in the dura mater (the protective outer layer surrounding the brain and spinal cord). This is often associated with connective tissue disorders like EDS. Other causes include traumatic injuries, spinal surgeries, lumbar punctures, or epidurals. Rarely, intracranial hypotension can result from insufficient CSF production, potentially linked to medical conditions or dehydration.

Symptoms of intracranial hypotension extend beyond positional headaches and can include neck stiffness, nausea, vomiting, dizziness, or vertigo. Patients may also experience hearing changes or visual disturbances and fatigue or brain fog. In severe cases, neurological symptoms such as seizures, confusion, or cranial nerve dysfunction may occur, underscoring the importance of timely diagnosis and intervention.

Imaging techniques such as an MRI can reveal signs like brain sagging or other indicators of CSF leaks. CT scans can pinpoint the exact location of the leak. There are treatment options, predominantly repairing the leak.

Treatment:

• Conservative measures: Bed rest to reduce strain on the spine, Increased fluid intake and caffeine, which may help raise CSF pressure temporarily.
• Epidural blood patch: Injection of a patient’s own blood into the epidural space to seal the leak and restore normal CSF pressure. Often highly effective.
• Surgical repair: If the source of the leak is identified and cannot be treated with a blood patch, surgical intervention may be needed to close the leak.
• Medications: Pain relievers for symptom management.
• Medications to address underlying causes, if applicable.

With appropriate treatment, many individuals experience significant relief from symptoms. Early diagnosis and treatment are crucial to preventing complications, such as persistent headaches, neurological issues, or long-term pressure imbalances.

For more information, view our videos about intracranial hypotension:

• Cerebrospinal Fluid (CSF) Pressure Disorders – Linda Gray, MD
• CSF Flow Disorders Related to Chiari Malformations – Herbert Fuchs, MD

Mast Cell Activation Disorder

A mast cell disorder, also known as mast cell activation disorder (MCAD), refers to a group of conditions characterized by abnormal activity or accumulation of mast cells, which are immune cells involved in allergic reactions and inflammation. These disorders can lead to excessive release of mast cell mediators, such as histamine, prostaglandins, and cytokines, causing a wide range of symptoms.

Types of Mast Cell Disorders:

1. Mastocytosis:
   • Caused by an abnormal accumulation of mast cells in tissues, such as the skin, bone marrow, or internal organs.
   • Cutaneous mastocytosis: Primarily affects the skin, causing rashes, hives, or spots (e.g., urticaria pigmentosa).
   • Systemic mastocytosis: Involves multiple organ systems, including the gastrointestinal tract, bones, and heart.
2. Mast Cell Activation Syndrome (MCAS):
   • Mast cells are present in normal numbers but are overactive, releasing mediators inappropriately or excessively.
   • Symptoms often mimic allergic reactions and vary greatly between individuals.
3.  Hereditary Alpha Tryptasemia:
   • A genetic condition linked to elevated levels of tryptase, an enzyme released by mast cells, leading to similar symptoms.

Symptoms vary widely and can affect multiple organ systems, often making diagnosis challenging. Patients may see skin flushing, itching or swelling, experience gastrointestinal or respiratory issues, feel anaphylaxis-like symptoms such as low blood pressure, dizziness, rapid heartbeat or have general fatigue, headache or bone and joint aches.

Along with your clinical history and symptom evaluation, your doctor may require blood tests to measure tryptase levels or urine tests for mast cell mediators (e.g., histamine or prostaglandin metabolites). A biopsy may be needed to examine mast cells in tissues.

Management often requires collaboration with immunologists, allergists, or specialists familiar with mast cell disorders. Symptoms are often managed with medication. Antihistamines (H1 and H2 blockers), mast cell stabilizers (e.g., cromolyn sodium), leukotriene receptor antagonists or in severe cases, epinephrine for anaphylaxis is needed. Patients should identify and avoid potential triggers such as foods, alcohol, medications, physical stress or environmental changes. Mast cell disorders are chronic conditions that can significantly impact daily life, but with proper management and support, symptoms can often be controlled.

For more information, view our videos about MCAS:

• Immune Dysregulation, Connective Tissue Disease Leading to Spinal Cord Problems – Anne Maitland, MD
• Neuropsychiatric Manifestations of Mast Cell Disorder – Anne Maitland, MD
• Mast Cell Dysfunction: It’s Not Just Allergies – Anne Maitland, MD

POTS

POTS (Postural Orthostatic Tachycardia Syndrome) is a condition that affects the autonomic nervous system, causing an abnormal increase in heart rate when transitioning from lying down to standing up. It is a form of dysautonomia, a group of disorders that impact involuntary functions such as heart rate, blood pressure, and digestion. Symptoms include rapid heart rate (tachycardia) upon standing, lightheadedness, fainting (syncope), brain fog, headache, nausea, abdominal pain, bloating, sweating abnormalities, shakiness, intolerance to exercise, cold or discolored extremities.

Diagnostic criteria include an increase of 30 beats per minute (or more) within 10 minutes of standing for adults (40 bpm for adolescents) without a significant drop in blood pressure. Your doctor may also order a tilt table test, active standing test and blood tests to rule out other causes. Symptoms must persist for at least three months.

POTS is often associated with conditions like Ehlers-Danlos Syndrome (EDS), mast cell activation syndrome (MCAS), or autoimmune disorders. POTS is more common in young women but can affect anyone. Triggering factors may include viral infections, surgeries, trauma, or prolonged bed rest. Treatment and management will include lifestyle changes, such as increasing fluid and salt intake (if advised by a doctor) to boost blood volume, wearing compression stockings to improve circulation, eating smaller, more frequent meals to prevent postprandial symptoms, practicing gradual position changes (e.g., standing up slowly) and engaging in a structured, low-impact exercise program. Your doctor may also prescribe medications based on individual needs.

While POTS can significantly impact daily life, proper management, education, and support can help individuals improve their quality of life. Collaboration with a knowledgeable healthcare team is crucial for creating a personalized care plan.

For more information, view our videos about POTS:

• Orthostatic Dizziness, POTS & Dysautonomia – Safwan Jaradeh, MD

Scoliosis

Scoliosis is a medical condition characterized by an abnormal sideways curvature of the spine. It often develops during childhood or adolescence, though it can occur at any age. The curvature can take the shape of an “S” or a “C” and may range from mild to severe. A curvature greater than 10 degrees is classified as scoliosis.

There are many types and causes of scoliosis, including:

• Congenital scoliosis – Caused by a bone abnormality present at birth. Patients may experience uneven shoulders or hips, a visible curve in the spine, asymmetry when bending forward or back pain and stiffness.
• Neuromuscular scoliosis – A result of abnormal muscles or nerves. Frequently seen in people with spina bifida or cerebral palsy or in those with various conditions that are accompanied by, or result in, paralysis.
• Degenerative scoliosis – This may result from traumatic (from an injury or illness) bone collapse, previous major back surgery, or osteoporosis (thinning of the bones).
• Idiopathic scoliosis. – The most common type of scoliosis, idiopathic scoliosis, has no specific identifiable cause. There are many theories, but none have been found to be conclusive. There is, however, strong evidence that idiopathic scoliosis is inherited.

Treatment depends on the severity of the curve, symptoms, and age of the patient. Braces can be used for growing children or adolescents with moderate curves (20-40 degrees) to prevent progression. Surgery is recommended for severe curves (typically over 45-50 degrees) or if the curvature causes pain, breathing issues, or significant deformity.

Most cases of scoliosis are mild and manageable, with little impact on daily life. Early detection is crucial for effective treatment and preventing severe progression. Individuals with scoliosis can often participate in sports and lead active, healthy lives. For those with severe scoliosis, multidisciplinary care, including orthopedists, physical therapists, and surgeons, may help improve function and quality of life.

For more information, view our videos about scoliosis:

• Longitudinal Scoliosis Follow-up in Chiari Patients – Cormac Maher, MD
• Understanding the Relationship between Chiari Malformation and Scoliosis – Vijay Ravindra, MD
• The Decision-Making Process for Patients with Progressive Scoliosis & CM – Michael Kelly, MD
• Chiari 1 & 2 Malformation: Impact of Neurosurgical Intervention on Eventual Scoliosis Curve – Michael Levy, MD

Tethered Cord

Tethered cord syndrome is a neurological disorder in which the spinal cord is abnormally attached (tethered) to the tissues around the spine, most commonly at the lower end. This attachment restricts the movement of the spinal cord within the spinal column, leading to stretching and damage as a person grows or moves. This tension can impair blood flow and nerve function, leading to a variety of symptoms that may worsen over time if untreated. Tethered cord syndrome can occur congenitally (present at birth) for several reasons or be acquired later in life due to trauma, surgery or spinal conditions.

Symptoms vary based on the severity of the tethering and the individual’s age. Symptoms can include back pain, leg weakness, numbness or tingling in the legs or feet, difficulty walking, bladder or bowel control issues, and foot or spinal deformities (scoliosis). In children, the symptoms often become more apparent as they grow. In adults, the condition may cause progressive neurological issues.

Your doctor will require an MRI to visualize the spinal cord and assess motor, sensory, and reflex function. Ultrasound is sometimes used in infants to detect tethered cords. Treatment typically involves detethering surgery to release the tethered cord and allow it to move freely, reducing further damage and alleviating symptoms. Non-surgical management options include physical therapy, pain management and monitoring. In adults, outcomes vary depending on the severity of nerve damage before treatment. Surgery can stabilize symptoms and provide pain relief, but nerve recovery may be limited if damage is longstanding.

TCS is a manageable condition with timely intervention. Early diagnosis and surgical treatment often lead to good outcomes, with many achieving normal growth and development. Regular follow-up with neurosurgery and neurology specialists is essential.

For more information, view our videos about tethered cord:

• Assessment, Management & Outcomes in Occult Tethered Cord Syndrome (OCTS) – Petra Klinge, MD
• Occult Tethered Cord Syndrome: A Reversible Clinical Syndrome – Petra Klinge, MD
• The Concept of Human Tethered Cord Syndrome – Petra Klinge, MD
• The Tethered Cord Syndrome: What is It? Do I Have It? How do I Diagnose It? – Bermans Iskandar, MD
• Co-Morbidity of Tethered Cord Syndrome in Chiari Malformation – Petra Klinge, MD

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