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Pseudotumor Cerebri

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Description: Pseudotumor cerebri, also known as idiopathic intracranial hypertension, is a condition characterized by increased intracranial pressure without an apparent cause, leading to symptoms such as headache and vision problems.
Type: Pseudotumor cerebri is generally considered an idiopathic condition, meaning its exact cause is not known. However, it is often associated with multiple risk factors rather than direct genetic transmission. While there is no specific genetic inheritance pattern, some studies suggest that genetic predispositions can play a role, making individuals more susceptible when exposed to certain environmental or physiological triggers.
Signs And Symptoms: The most common symptom of IIH is severe headache, which occurs in almost all (92–94%) cases. It is characteristically worse in the morning, generalized in character and throbbing in nature. It may be associated with nausea and vomiting. The headache can be made worse by any activity that further increases the intracranial pressure, such as coughing and sneezing. The pain may also be experienced in the neck and shoulders. Many have pulsatile tinnitus, a whooshing sensation in one or both ears (64–87%); this sound is synchronous with the pulse. Various other symptoms, such as numbness of the extremities, generalized weakness, pain and/or numbness in one or both sides of the face, loss of smell, and loss of coordination, are reported more rarely; none are specific for IIH. In children, numerous nonspecific signs and symptoms may be present.The increased pressure leads to compression and traction of the cranial nerves, a group of nerves that arise from the brain stem and supply the face and neck. Most commonly, the abducens nerve (sixth nerve) is involved. This nerve supplies the muscle that pulls the eye outward. Those with sixth nerve palsy therefore experience horizontal double vision which is worse when looking towards the affected side. More rarely, the oculomotor nerve and trochlear nerve (third and fourth nerve palsy, respectively) are affected; both play a role in eye movements. The facial nerve (seventh cranial nerve) is affected occasionally – the result is total or partial weakness of the muscles of facial expression on one or both sides of the face.The increased pressure leads to papilledema, which is swelling of the optic disc, the spot where the optic nerve enters the eyeball. This occurs in practically all cases of IIH, but not everyone experiences symptoms from this. Those who do experience symptoms typically report "transient visual obscurations", episodes of difficulty seeing that occur in both eyes but not necessarily at the same time. Long-term untreated papilledema leads to visual loss, initially in the periphery but progressively towards the center of vision.Physical examination of the nervous system is typically normal apart from the presence of papilledema, which is seen on examination of the eye with a small device called an ophthalmoscope or in more detail with a fundus camera. If there are cranial nerve abnormalities, these may be noticed on eye examination in the form of a squint (third, fourth, or sixth nerve palsy) or as facial nerve palsy. If the papilledema has been longstanding, visual fields may be constricted and visual acuity may be decreased. Visual field testing by automated (Humphrey) perimetry is recommended as other methods of testing may be less accurate. Longstanding papilledema leads to optic atrophy, in which the disc looks pale and visual loss tends to be advanced.
Prognosis: It is not known what percentage of people with IIH will remit spontaneously, and what percentage will develop chronic disease.IIH does not normally affect life expectancy. The major complications from IIH arise from untreated or treatment-resistant papilledema. In various case series, the long-term risk of one's vision being significantly affected by IIH is reported to lie anywhere between 10 and 25%.
Onset: The onset of pseudotumor cerebri, also known as idiopathic intracranial hypertension, typically occurs in adults aged 20-50 years, with a higher prevalence in women, particularly those who are overweight or obese. Symptoms often develop gradually and may include headaches, visual disturbances, and pulsatile tinnitus.
Prevalence: The prevalence of pseudotumor cerebri, also known as idiopathic intracranial hypertension, is estimated to be about 1 to 2 cases per 100,000 people in the general population. However, it is significantly more common among obese women of childbearing age, with an estimated prevalence of approximately 19 to 21 cases per 100,000 in this demographic group.
Epidemiology: On average, IIH occurs in about one per 100,000 people, and can occur in children and adults. The median age at diagnosis is 30. IIH occurs predominantly in women, especially in the ages 20 to 45, who are four to eight times more likely than men to be affected. Overweight and obesity strongly predispose a person to IIH: women who are more than ten percent over their ideal body weight are thirteen times more likely to develop IIH, and this figure goes up to nineteen times in women who are more than twenty percent over their ideal body weight. In men this relationship also exists, but the increase is only five-fold in those over 20 percent above their ideal body weight.Despite several reports of IIH in families, there is no known genetic cause for IIH. People from all ethnicities may develop IIH. In children, there is no difference in incidence between males and females.From national hospital admission databases it appears that the need for neurosurgical intervention for IIH has increased markedly over the period between 1988 and 2002. This has been attributed at least in part to the rising prevalence of obesity, although some of this increase may be explained by the increased popularity of shunting over optic nerve sheath fenestration.
Intractability: Pseudotumor cerebri, also known as idiopathic intracranial hypertension (IIH), can be challenging to treat but is not necessarily intractable. The effectiveness of treatment can vary among individuals. Management typically involves a combination of lifestyle changes, medications, and potentially surgical options to relieve pressure and alleviate symptoms. Some patients may achieve good control of their condition, while others might experience ongoing challenges.
Disease Severity: Pseudotumor cerebri, also known as idiopathic intracranial hypertension, can vary in severity. Some patients experience mild symptoms such as headaches and blurred vision, while others may suffer from more severe consequences, including vision loss due to optic nerve damage if not promptly treated. Nan can be interpreted as not applicable, as there isn't a standardized numerical severity rating for this condition.
Healthcare Professionals: Disease Ontology ID - DOID:11459
Pathophysiology: Pseudotumor cerebri, also known as idiopathic intracranial hypertension (IIH), is a condition characterized by increased intracranial pressure without an evident cause. The pathophysiology of pseudotumor cerebri is not fully understood, but several contributing factors have been proposed:

1. **Impaired Cerebrospinal Fluid (CSF) Absorption**: A common hypothesis is that there is a problem with the absorption of CSF through the arachnoid villi into the venous system. This leads to an accumulation of CSF, resulting in increased intracranial pressure.

2. **Venous Outflow Obstruction**: Some studies suggest venous outflow obstruction or stenosis in the transverse and sagittal sinuses. This can lead to increased venous pressure, contributing to elevated intracranial pressure.

3. **Obesity**: The condition is often associated with obesity, particularly in women of childbearing age. Increased intra-abdominal pressure in obesity might increase intrathoracic venous pressures, which could, in turn, elevate intracranial pressure.

4. **Hormonal Factors**: Hormonal influences, possibly involving vitamin A metabolism or oral contraceptives, might also play a role.

5. **Genetic Factors**: There may be a genetic predisposition to impaired CSF absorption or other mechanisms that could lead to elevated intracranial pressure.

Overall, pseudotumor cerebri involves a complex interplay of multiple factors leading to increased intracranial pressure, presenting with symptoms such as headaches, visual disturbances, and papilledema.
Carrier Status: Carrier status is not applicable to pseudotumor cerebri. Pseudotumor cerebri, also known as idiopathic intracranial hypertension, is not a hereditary condition in the traditional sense and does not involve genetic carriers. It refers to increased intracranial pressure without a detectable cause, and its exact etiology remains largely unknown.
Mechanism: The cause of IIH is not known. The Monro–Kellie rule states that the intracranial pressure is determined by the amount of brain tissue, cerebrospinal fluid (CSF) and blood inside the bony cranial vault. Three theories therefore exist as to why the pressure might be raised in IIH: an excess of CSF production, increased volume of blood or brain tissue, or obstruction of the veins that drain blood from the brain.The first theory, that of increased production of cerebrospinal fluid, was proposed in early descriptions of the disease. However, there is no experimental data that supports a role for this process in IIH.The second theory posits that either increased blood flow to the brain or increase in the brain tissue itself may result in the raised pressure. Little evidence has accumulated to support the suggestion that increased blood flow plays a role, but recently Bateman et al. in phase contrast MRA studies have quantified cerebral blood flow (CBF) in vivo and suggests that CBF is abnormally elevated in many people with IIH. Both biopsy samples and various types of brain scans have shown an increased water content of the brain tissue. It remains unclear why this might be the case.The third theory suggests that restricted venous drainage from the brain may be impaired resulting in congestion. Many people with IIH have narrowing of the transverse sinuses. It is not clear whether this narrowing is the pathogenesis of the disease or a secondary phenomenon. It has been proposed that a positive biofeedback loop may exist, where raised ICP (intracranial pressure) causes venous narrowing in the transverse sinuses, resulting in venous hypertension (raised venous pressure), decreased CSF resorption via arachnoid granulation and further rise in ICP.
Treatment: The primary goal in treatment of IIH is the prevention of visual loss and blindness, as well as symptom control. IIH is treated mainly through the reduction of CSF pressure and IIH may resolve after initial treatment, may go into spontaneous remission (although it can still relapse at a later stage), or may continue chronically. There are three main treatment approaches: weight loss, different medications and surgical interventions. Remission is seen for most patients that achieve a weight loss of around 6–10%. Bariatric surgery can be an option for those patients that don't achieve weight loss with lifestyle changes and diet.
Compassionate Use Treatment: For pseudotumor cerebri, also known as idiopathic intracranial hypertension, compassionate use or off-label treatments may include:

1. **Medications:**
- **Topiramate:** This anti-seizure medication may also help reduce cerebrospinal fluid (CSF) production and aid in weight loss, potentially reducing intracranial pressure.
- **Furosemide:** A diuretic that can help to decrease CSF volume by increasing urine output.

2. **Surgical Interventions:**
- **Stenting of the venous sinus:** Though mostly considered for severe cases or if standard treatments are ineffective, stenting can improve CSF drainage.
- **CSF diversion procedures:** Such as ventriculoperitoneal (VP) shunting or lumboperitoneal (LP) shunting, which can help divert excess CSF from the brain to other parts of the body.

3. **Investigational Treatments:**
- **Glucagon-like peptide-1 receptor agonists (GLP-1RAs):** These drugs, often used for diabetes treatment, are being studied for their potential benefits in reducing intracranial pressure.

Always consult with a healthcare professional before considering any treatments.
Lifestyle Recommendations: Lifestyle recommendations for managing pseudotumor cerebri (also known as idiopathic intracranial hypertension) include:

1. **Weight Management**: Achieving and maintaining a healthy weight can reduce symptoms and pressure on the brain. Weight loss is particularly effective in this condition.

2. **Dietary Changes**: Adopt a healthy, balanced diet that limits salt and includes plenty of fruits, vegetables, and whole grains.

3. **Exercise**: Regular physical activity can help with weight management and overall well-being. Aim for moderate exercises like walking, swimming, or cycling.

4. **Medication Adherence**: Follow any prescribed medication regimens diligently, such as diuretics to reduce fluid retention or other medications to decrease cerebrospinal fluid production.

5. **Hydration**: Stay well-hydrated but avoid excessive fluid intake which can worsen symptoms.

6. **Monitor Symptoms**: Keep track of any changes in symptoms and communicate with healthcare providers regularly.

7. **Elevate Head While Sleeping**: Sleeping with the head elevated can help reduce intracranial pressure.

8. **Regular Check-ups**: Attend regular medical appointments for monitoring and managing the condition effectively.

9. **Avoid Triggers**: Steer clear of known triggers that can exacerbate symptoms. This might include avoiding certain medications that can increase intracranial pressure, like tetracycline or nitrofurantoin.

Following these lifestyle recommendations can help manage symptoms and improve quality of life for individuals with pseudotumor cerebri.
Medication: The best-studied medical treatment for intracranial hypertension is acetazolamide (Diamox), which acts by inhibiting the enzyme carbonic anhydrase, and it reduces CSF production by six to 57 percent. It can cause the symptoms of hypokalemia (low blood potassium levels), which include muscle weakness and tingling in the fingers. Acetazolamide cannot be used in pregnancy, since it has been shown to cause embryonic abnormalities in animal studies. Also, in human beings it has been shown to cause metabolic acidosis as well as disruptions in the blood electrolyte levels of newborn babies. The diuretic furosemide is sometimes used for a treatment if acetazolamide is not tolerated, but this drug sometimes has little effect on the ICP.Various analgesics (painkillers) may be used in controlling the headaches of intracranial hypertension. In addition to conventional agents such as paracetamol, a low dose of the antidepressant amitriptyline or the anticonvulsant topiramate have shown some additional benefit for pain relief.The use of steroids in the attempt to reduce the ICP is controversial. These may be used in severe papilledema, but otherwise their use is discouraged.
Repurposable Drugs: Pseudotumor cerebri, also known as idiopathic intracranial hypertension (IIH), can sometimes be managed with repurposable drugs. Commonly used repurposable medications include:

1. **Acetazolamide**: Primarily used as a diuretic and for treating glaucoma, it reduces cerebrospinal fluid (CSF) production and is often the first-line treatment.
2. **Topiramate**: An anticonvulsant that may help reduce CSF production and provide headache relief.
3. **Furosemide**: Another diuretic that can be used as an adjunct to acetazolamide to further decrease CSF production.

These drugs, primarily used for other conditions, can help manage the symptoms and reduce the pressure associated with pseudotumor cerebri.
Metabolites: Pseudotumor cerebri, also known as idiopathic intracranial hypertension, primarily involves increased intracranial pressure without an evident cause. Although specific metabolites directly linked to pseudotumor cerebri are not well-defined, researchers often examine cerebrospinal fluid (CSF) constituents and systemic metabolic markers. Elevated CSF pressure, alterations in CSF composition, such as increased protein levels, and potential inflammatory markers are areas of interest. The exact metabolic pathways or specific metabolites responsible remain under investigation.
Nutraceuticals: There is limited scientific evidence supporting the use of nutraceuticals for pseudotumor cerebri, also known as idiopathic intracranial hypertension. The condition typically involves increased intracranial pressure without an obvious cause. Conventional treatment includes weight loss, medications like acetazolamide, and sometimes surgical interventions. Nutraceuticals have not been well-studied for efficacy in this condition, so it's essential to consult a healthcare provider for appropriate management.
Peptides: Pseudotumor cerebri, also known as idiopathic intracranial hypertension, primarily involves increased intracranial pressure without an obvious cause. Peptides have not been established as a standard treatment for this condition. Treatment typically includes weight management, medications to reduce cerebrospinal fluid production such as acetazolamide, and sometimes surgical interventions like optic nerve sheath fenestration or shunt placement. Research is ongoing to explore various treatment options, but peptides have not been specifically highlighted in current standard treatments.