Cataplexy: A Classical History

Cataplexy is a medical condition characterized by sudden loss of muscle tone, which can last from a few seconds to a minute. Patients may experience partial episodes that cause them to drop objects, sit down or stop walking suddenly, or lose sphincter tone. Severe episodes may lead to complete paralysis, except for respiratory muscles. Longer episodes can also be associated with hallucinations. Attacks are usually triggered by excitement or outbursts of emotion. Patients may also experience the sensation of being unable to move when going to sleep or waking up.

When diagnosing cataplexy, the main differential is between it and complex partial seizures. However, the amount of detail given in the patient’s history strongly suggests cataplexy as the most likely diagnosis. The history is not suggestive of cardiac syncope, and an underlying organic disorder is more likely than psychosis. Simple syncope is also not suggested by the patient’s history.

In summary, the classical history of cataplexy is crucial in diagnosing and treating this medical condition. Patients may experience sudden loss of muscle tone, partial or complete paralysis, hallucinations, and the sensation of being unable to move. Attacks are usually triggered by excitement or outbursts of emotion, and the main differential is between cataplexy and complex partial seizures.

Sagittal sinus thrombosis can be diagnosed with high accuracy using this imaging technique, which is not commonly used for other cases.

Intracranial Venous Thrombosis: Causes, Symptoms, and Management

Intracranial venous thrombosis is a condition that can cause cerebral infarction, although it is less common than arterial causes. About 50% of patients have isolated sagittal sinus thromboses, while the remainder have coexistent lateral sinus thromboses and cavernous sinus thromboses. Common symptoms include sudden onset headache, nausea and vomiting, and reduced consciousness.

To diagnose intracranial venous thrombosis, MRI venography is the gold standard, although CT venography is an alternative. Non-contrast CT head is normal in around 70% of patients, and D-dimer levels may be elevated. The management of intracranial venous thrombosis involves anticoagulation, typically with low molecular weight heparin acutely, and warfarin for longer-term anticoagulation.

There are specific syndromes associated with intracranial venous thrombosis. Sagittal sinus thrombosis may present with seizures and hemiplegia, and parasagittal biparietal or bifrontal haemorrhagic infarctions are sometimes seen. Cavernous sinus thrombosis may cause periorbital oedema, ophthalmoplegia, trigeminal nerve involvement, and central retinal vein thrombosis. Lateral sinus thrombosis may cause 6th and 7th cranial nerve palsies.

In summary, intracranial venous thrombosis is a serious condition that requires prompt diagnosis and management. Patients with symptoms such as sudden onset headache, nausea and vomiting, and reduced consciousness should seek medical attention immediately. MRI venography is the gold standard for diagnosis, and anticoagulation is the mainstay of treatment. Specific syndromes associated with intracranial venous thrombosis may present with seizures, hemiplegia, ophthalmoplegia, and other symptoms.

The woman’s reduced conscious level suggests that she may be experiencing airway obstruction. Therefore, the ALS algorithm recommends seeking airway manoeuvres and anaesthetic support for potential intubation and ventilation.

While activated charcoal may be useful in limiting serum levels in acute ingested poisonings, it does not address the urgent concern of airway obstruction and is not the most appropriate first step.

Haemofiltration can clear various drugs, but it takes time to have an effect and does not address the pressing concern of airway obstruction. Therefore, it is not the correct answer.

Intravenous flumazenil is the primary reversal agent for benzodiazepine overdose, but its use must be approached with extreme caution as it can cause intractable seizures and arrhythmias. Given the woman’s young age and history of epilepsy, airway support and ventilation, if necessary, would be a more appropriate approach in this case.

Status epilepticus is a medical emergency that occurs when a person experiences a single seizure lasting more than five minutes or two seizures within a five-minute period without returning to normal between them. It is crucial to terminate seizure activity as soon as possible to prevent irreversible brain damage.

The management of status epilepticus involves ensuring the patient’s airway is clear, providing oxygen, and checking their blood glucose levels. The first-line treatment is administering IV benzodiazepines, such as diazepam or lorazepam. In the prehospital setting, PR diazepam or buccal midazolam may be given. In the hospital, IV lorazepam is typically used and may be repeated once after 10-20 minutes.

If the status epilepticus continues or becomes established, a second-line agent such as phenytoin or phenobarbital infusion may be started. If there is no response within 45 minutes from onset, the best way to achieve rapid control of seizure activity is induction of general anesthesia. Overall, prompt and effective management of status epilepticus is crucial to prevent long-term neurological damage.

The correct answer is option C, which is the occlusion of the right anterior inferior cerebellar artery. This type of occlusion causes a lateral inferior pontine infarction, resulting in symptoms such as vertigo, vomiting, nystagmus, and tinnitus on the ipsilateral side. Other symptoms include facial weakness, impaired lateral gaze, ataxia, and Horner syndrome. On the contralateral side, there may be impaired pain and temperature sensation due to spinothalamic tract involvement. The other options listed (A, B, D, and E) are incorrect and have different symptoms associated with their respective occlusions.

The patient displays two out of three classic symptoms of normal pressure hydrocephalus (NPH), including gait disturbance, urinary incontinence, and cognitive impairment. The presence of normal opening pressure and dilated ventricles further supports this diagnosis. Mild microangiopathic disease may also contribute to gait issues, but urgent vascular imaging and aspirin loading are not necessary as there is no indication of an acute stroke. Intravenous Pabrinex is unlikely to improve symptoms, and a Sinemet trial is not warranted as the patient does not exhibit signs of Parkinsonism.

The most effective treatment for NPH is neurosurgical implantation of a ventricular shunt, typically into the peritoneum. While dementia and cognitive impairment may not improve after surgery, gait apraxia often does. Removing a significant amount of cerebrospinal fluid and assessing the patient’s walking time can help predict the likelihood of improvement after surgery. It is also important to consider any potential primary urological causes for the patient’s urinary symptoms.

Understanding Normal Pressure Hydrocephalus

Normal pressure hydrocephalus is a type of dementia that is reversible and commonly seen in elderly patients. It is believed to be caused by a reduction in the absorption of cerebrospinal fluid (CSF) at the arachnoid villi, which may be due to head injury, subarachnoid hemorrhage, or meningitis. The condition is characterized by a classical triad of symptoms, including urinary incontinence, dementia and bradyphrenia, and gait abnormality that may resemble Parkinson’s disease. These symptoms usually develop over a few months, and around 60% of patients will have all three features at the time of diagnosis.

Imaging studies typically show hydrocephalus with ventriculomegaly, which is an enlargement of the ventricles in the brain, in the absence of or out of proportion to sulcal enlargement. The management of normal pressure hydrocephalus involves ventriculoperitoneal shunting, which can help alleviate symptoms. However, around 10% of patients who undergo shunting may experience significant complications such as seizures, infection, and intracerebral hemorrhages. Therefore, careful consideration and monitoring are necessary when deciding on treatment options for patients with normal pressure hydrocephalus.

Long-term weakness is experienced by up to 15 percent of individuals with Guillain-Barre syndrome. Therefore, it is crucial to promptly recognize and treat GBS with intravenous immunoglobulin and/or plasma exchange to speed up recovery and reduce the risk of long-term complications. Fatigue is the most common long-term complication, but pain and persistent neurological deficits may also occur, with 7- percent of patients reporting long-term neurological difficulties depending on the clinical course.

Managing Guillain-Barre Syndrome

Guillain-Barre syndrome is a condition where the immune system attacks the peripheral nervous system, often triggered by an infection such as Campylobacter jejuni. To manage this condition, IV immunoglobulins (IVIG) or plasma exchange can be used. IVIG is preferred as it is just as effective as plasma exchange but is better tolerated and easier to administer. There is no benefit in combining both treatments, and steroids and immunosuppressants have not been shown to be helpful. It is important to regularly monitor respiratory function by measuring FVC. While severe motor problems persist in about 15% of cases, around 5% of patients with Guillain-Barre syndrome die.

The case presented highlights a neurological condition with ataxia and deafness that is likely caused by a mitochondrial disorder. While there are several well-known mitochondrial syndromes, many patients do not fit into these classical phenotypes. Common features of mitochondrial diseases include ataxia, deafness, epilepsy, diabetes, and eye movement problems. Friedreich’s ataxia, Huntington’s disease, Miller-Fisher syndrome, and Spinocerebellar ataxia type 4 are other neurological conditions that present with similar symptoms but have different underlying causes and mechanisms.

Causes of Young Stroke

Carotid artery dissection is a frequent cause of stroke in individuals under the age of 40. It can occur spontaneously and is characterized by neck, facial, or head pain, ipsilateral Horner’s syndrome, and contralateral weakness. On the other hand, cardiac embolism is also a common cause of young stroke, but it is less likely to occur when accompanied by facial and neck pain. Migraine with aura can also lead to stroke, but it typically presents with posterior circulation symptoms and signs. Subarachnoid hemorrhage, on the other hand, is known for its thunderclap headache and neck stiffness. Finally, vertebral artery dissection causes head and neck pain but presents with posterior circulation symptoms and signs.

Overall, it is essential to recognize the various causes of young stroke to ensure prompt and accurate diagnosis and treatment.

Inclusion Body Myositis: A Rare Myopathy with Distal Weakness

This patient is experiencing progressive weakness in both proximal and distal muscles, with associated wasting but no reflex changes or sensory disturbance. The weakness is more pronounced in finger and wrist flexion than in extension, and is not fatigable. These symptoms are consistent with inclusion body myositis, a rare myopathy that can be either sporadic or inherited and is characterized by the presence of inclusion bodies on muscle biopsy.

Inclusion body myositis is unique in that it typically presents with more distal weakness, particularly affecting the finger and wrist flexors and knee extensors. Dysphagia may also occur in some patients. This condition can be distinguished from other myopathies, such as cervical myelopathy or myasthenia gravis, which would not present with these specific symptoms.

While a lower motor neurone variant of motor neurone disease may be considered as a differential diagnosis, fasciculations would be expected in this case. Multifocal motor neuropathy associated with anti-ganglioside antibodies may also be considered, but this would typically present with isolated limb neurology and depressed reflexes. Overall, inclusion body myositis should be considered in patients presenting with distal weakness and wasting, particularly in the absence of fasciculations and upper motor neurone signs.

In the case of this woman who has experienced an ischaemic stroke and meets the urgent thrombolysis criteria, thrombolysis is the best course of action to increase the likelihood of fully restoring function to the affected limbs. While other management options may have a role to play, thrombolysis is the most appropriate choice in the hyperacute setting. There are no absolute contraindications to thrombolysis.

The Royal College of Physicians (RCP) and NICE have published guidelines on the diagnosis and management of patients following a stroke. The guidelines provide recommendations for the management of acute stroke, including maintaining normal levels of blood glucose, hydration, oxygen saturation, and temperature. Blood pressure should not be lowered in the acute phase unless there are complications. Aspirin should be given as soon as possible if a haemorrhagic stroke has been excluded. Anticoagulants should not be started until brain imaging has excluded haemorrhage, and usually not until 14 days have passed from the onset of an ischaemic stroke. If the cholesterol is > 3.5 mmol/l, patients should be commenced on a statin.

Thrombolysis with alteplase should only be given if it is administered within 4.5 hours of onset of stroke symptoms and haemorrhage has been definitively excluded. There are absolute and relative contraindications to thrombolysis, including previous intracranial haemorrhage, intracranial neoplasm, and active bleeding. Mechanical thrombectomy is a new treatment option for patients with an acute ischaemic stroke. NICE recommends considering thrombectomy together with intravenous thrombolysis for people last known to be well up to 24 hours previously.

Secondary prevention recommendations from NICE include the use of clopidogrel and dipyridamole. Clopidogrel is recommended ahead of combination use of aspirin plus modified-release dipyridamole in people who have had an ischaemic stroke. Aspirin plus MR dipyridamole is recommended after an ischaemic stroke only if clopidogrel is contraindicated or not tolerated. MR dipyridamole alone is recommended after an ischaemic stroke only if aspirin or clopidogrel are contraindicated or not tolerated. Carotid artery endarterectomy should only be considered if carotid stenosis is greater than 70% according to ECST criteria or greater than 50% according to NASCET criteria.

Treatment for Wernicke-Korsakoff Syndrome

Wernicke-Korsakoff syndrome is a condition characterized by poor short-term memory, confabulation, broad-based gait, cerebellar signs, and vestibular paralysis. If left untreated, memory loss may become permanent. Thiamine is the treatment of choice for all patients who present with these symptoms. It should be given parenterally to prevent further damage. Nystagmus is also present on eye examination.

Although macrocytosis may represent co-existent B12 deficiency, it may also be associated with alcohol abuse. In practice, most patients admitted with alcoholism are managed with a combination B vitamin preparation.

Aspirin is not effective in managing neurological dysfunction unless the symptoms are related to cerebral ischemia.

Glucose replacement without thiamine may worsen memory dysfunction. Therefore, thiamine deficiency is the main driver for this patient’s presentation, and glucose IV should not be given without thiamine.

The elevated MCV seen in this patient is most likely associated with alcoholism or B12 deficiency, rather than iron deficiency. Iron supplementation is not necessary in this case.

The patient is experiencing an acute flaccid paralysis, which could be caused by Guillain-Barré syndrome (GBS) following a Campylobacter infection. Nerve conduction studies show slowed conduction velocity and conduction block due to impaired transmission along demyelinated nerves. Multiple sclerosis (MS) is unlikely as it is a disease of the central nervous system and does not present with upper motor neuron signs. Motor neuron disease (MND) is also unlikely as the symptoms have evolved too rapidly. Poliomyelitis is rare in developed countries and would not involve the nervous system so diffusely. Botulism and myasthenia gravis are possible differentials, but the onset of food-borne botulism is usually within 48 hours of exposure and the neurophysiology findings suggest peripheral nerve demyelination rather than neuromuscular junction dysfunction.

The patient’s history is consistent with a subacute sensory and motor peripheral neuropathy, which could be caused by inflammatory neuropathies such as CIDP or paraproteinaemic neuropathies. CIDP is characterized by progressive weakness and impaired sensory function in the limbs, and treatment includes corticosteroids, plasmapheresis, and physiotherapy. Guillain-Barré syndrome is an acute post-infectious neuropathy that is closely linked to CIDP. Cervical spondylosis would cause upper motor neuron signs, while HMSN is a chronic neuropathy with a family history. Multifocal motor neuropathy is a treatable neuropathy affecting motor conduction only.

Complex Presentation of Neurosarcoidosis

This patient has a complicated medical history and a range of paraclinical findings. He has experienced a left anterior circulation infarct, a left LMN facial nerve palsy, and a possible neuropathy in his left lower limb. Additionally, he has bilateral iritis, hypercalcaemia, hypernatraemia, and evidence of diabetes insipidus. Analysis of his cerebrospinal fluid (CSF) shows intrathecal IgG synthesis and a lymphocytosis. His chest x-ray reveals bilateral fibrosis and lymphadenopathy. These symptoms and findings are all consistent with a diagnosis of neurosarcoidosis.

Other potential diagnoses were considered but ultimately ruled out. Tuberculosis meningitis, for example, is unlikely given the patient’s presentation of cranial neuropathies and focal signs, as well as the absence of a syndrome of inappropriate antidiuretic hormone (SIADH). Granulomatosis with polyangiitis was also considered, but the patient did not exhibit upper respiratory tract symptoms and did not test positive for cANCA. Small cell neoplasm with meningeal spread and cerebral lymphoma were also ruled out based on the absence of certain key symptoms and findings.

Overall, this patient’s complex presentation highlights the challenges of diagnosing and treating neurosarcoidosis. Close attention to a range of clinical and paraclinical factors is necessary to arrive at an accurate diagnosis and develop an effective treatment plan.

Discussing organ donation with family members prior to death increases the likelihood of consent. If the family objects, healthcare professionals should approach the matter sensitively and encourage acceptance of the deceased’s wishes. Common reasons for refusal include fear of disfigurement and uncertainty about the patient’s wishes. The decision ultimately rests with the family and should be respected. The Transplant Surgeon should not be involved, and HLA typing will be required after a decision is made.

The patient’s medical history indicates a recurring problem of not being able to access their regular Parkinson’s disease medication, which has resulted in symptoms such as fever and muscle cramps. These symptoms suggest a diagnosis of Parkinsonism-hyperpyrexia syndrome, a type of neuroleptic malignant syndrome that can occur when PD medications are changed or discontinued. The patient’s fluctuating blood pressure indicates autonomic instability, which requires careful monitoring and supportive care in an intensive care setting. Treatment involves reinstating the original dose of medication, either orally or through a nasogastric tube. If this is not possible, intravenous L-dopa or parenteral dopamine agonists such as rotigotine or apomorphine can be administered.

Neuroleptic malignant syndrome is a rare but serious condition that can occur in patients taking antipsychotic medication or dopaminergic drugs for Parkinson’s disease. It can also occur with atypical antipsychotics. The exact cause of this condition is unknown, but it is believed that dopamine blockade induced by antipsychotics triggers massive glutamate release, leading to neurotoxicity and muscle damage. Symptoms typically appear within hours to days of starting an antipsychotic and include fever, muscle rigidity, autonomic lability, and agitated delirium with confusion. A raised creatine kinase is present in most cases, and acute kidney injury may develop in severe cases.

Management of neuroleptic malignant syndrome involves stopping the antipsychotic medication and transferring the patient to a medical ward or intensive care unit. IV fluids are given to prevent renal failure, and dantrolene may be useful in selected cases. Dantrolene works by decreasing excitation-contraction coupling in skeletal muscle by binding to the ryanodine receptor and decreasing the release of calcium from the sarcoplasmic reticulum. Bromocriptine, a dopamine agonist, may also be used. It is important to note that neuroleptic malignant syndrome is different from serotonin syndrome, although both conditions can cause a raised creatine kinase.

Foot drop is a commonly tested topic in MRCP exams, with the differential diagnosis often including a common peroneal nerve lesion. In this case, certain factors suggest that a common peroneal nerve palsy is more likely than an L5 radiculopathy. Patients with common peroneal nerve palsy typically retain the ability to invert their ankle and flex their big toe, while experiencing sensory loss in the lateral aspect of the lower leg and dorsum of the foot. In contrast, L5 radiculopathy usually presents as a narrow strip down the middle of the anterior lower limb, without affecting the lateral lower leg. Both conditions typically involve present ankle jerks, as the tibial nerve branches from S1 and the sciatic nerve. There is no indication of involvement of multiple lumbar levels in this case. Common causes of common peroneal nerve palsy include trauma or compression at the fibula head, often due to tight plaster casts.

Understanding Common Peroneal Nerve Lesion

A common peroneal nerve lesion is a type of nerve injury that often occurs at the neck of the fibula. This condition is characterized by foot drop, which is the most common symptom. Other symptoms include weakness of foot dorsiflexion and eversion, weakness of extensor hallucis longus, sensory loss over the dorsum of the foot and the lower lateral part of the leg, and wasting of the anterior tibial and peroneal muscles.

Status epilepticus is a medical emergency that occurs when a person experiences a single seizure lasting more than five minutes or two seizures within a five-minute period without returning to normal between them. It is crucial to terminate seizure activity as soon as possible to prevent irreversible brain damage.

The management of status epilepticus involves ensuring the patient’s airway is clear, providing oxygen, and checking their blood glucose levels. The first-line treatment is administering IV benzodiazepines, such as diazepam or lorazepam. In the prehospital setting, PR diazepam or buccal midazolam may be given. In the hospital, IV lorazepam is typically used and may be repeated once after 10-20 minutes.

If the status epilepticus continues or becomes established, a second-line agent such as phenytoin or phenobarbital infusion may be started. If there is no response within 45 minutes from onset, the best way to achieve rapid control of seizure activity is induction of general anesthesia. Overall, prompt and effective management of status epilepticus is crucial to prevent long-term neurological damage.

Individuals under the age of 60 who experience an acute MCA territory ischemic stroke accompanied by significant cerebral edema should be provided with surgical decompression through hemicraniectomy within 48 hours of the stroke’s onset.

The Royal College of Physicians (RCP) and NICE have published guidelines on the diagnosis and management of patients following a stroke. The guidelines provide recommendations for the management of acute stroke, including maintaining normal levels of blood glucose, hydration, oxygen saturation, and temperature. Blood pressure should not be lowered in the acute phase unless there are complications. Aspirin should be given as soon as possible if a haemorrhagic stroke has been excluded. Anticoagulants should not be started until brain imaging has excluded haemorrhage, and usually not until 14 days have passed from the onset of an ischaemic stroke. If the cholesterol is > 3.5 mmol/l, patients should be commenced on a statin.

Thrombolysis with alteplase should only be given if it is administered within 4.5 hours of onset of stroke symptoms and haemorrhage has been definitively excluded. There are absolute and relative contraindications to thrombolysis, including previous intracranial haemorrhage, intracranial neoplasm, and active bleeding. Mechanical thrombectomy is a new treatment option for patients with an acute ischaemic stroke. NICE recommends considering thrombectomy together with intravenous thrombolysis for people last known to be well up to 24 hours previously.

Secondary prevention recommendations from NICE include the use of clopidogrel and dipyridamole. Clopidogrel is recommended ahead of combination use of aspirin plus modified-release dipyridamole in people who have had an ischaemic stroke. Aspirin plus MR dipyridamole is recommended after an ischaemic stroke only if clopidogrel is contraindicated or not tolerated. MR dipyridamole alone is recommended after an ischaemic stroke only if aspirin or clopidogrel are contraindicated or not tolerated. Carotid artery endarterectomy should only be considered if carotid stenosis is greater than 70% according to ECST criteria or greater than 50% according to NASCET criteria.

Idiopathic Intracranial Hypertension: Causes and Treatment Options

Idiopathic intracranial hypertension (IIH) is a condition that primarily affects women in their third decade of life and is characterized by increased pressure within the skull. The exact cause of IIH is unknown, but it is associated with a high body mass index and certain medications, such as contraceptive hormones, dopamine agonists, antibiotics, and phenytoin. Vitamin A excess is also a known cause of IIH.

Diagnosis of IIH involves ruling out other conditions through imaging tests and measuring the pressure within the skull through a lumbar puncture. Treatment options include weight management, discontinuing any medications that may be contributing to the condition, and using diuretics like acetazolamide. Therapeutic lumbar puncture may also be helpful.

While medications like atenolol and bendroflumethiazide are useful for treating other conditions like angina and hypertension, they have no role in treating IIH. Additionally, excessive intake of certain B vitamins can cause peripheral neuropathy, but vitamin C is water-soluble and typically does not cause harm in excess amounts.

Encephalitis is a serious condition that can have a variety of causes. One possibility is West Nile disease, which is caused by a virus transmitted by mosquitoes. While this disease was once considered tropical, it has become more common in recent years, with thousands of cases reported in the US alone. Symptoms can include fever, myalgia, nausea, vomiting, and a rash, and neurological involvement is possible, particularly in older individuals or those with weakened immune systems. Other potential causes of encephalitis include Lyme disease, which is associated with tick bites, and TB meningitis, which is characterized by lymphocytic inflammation. Lassa fever, a viral hemorrhagic fever endemic to West Africa, is another possibility. While there is no cure for most forms of encephalitis, early diagnosis and treatment can help manage symptoms and improve outcomes.

For women of childbearing age who suffer from migraines, propranolol is a better choice than topiramate as a prophylactic medication. This is because topiramate is known to cause birth defects such as cleft palate. In this patient’s case, her symptoms suggest a migraine, and prophylaxis can be offered to prevent future episodes. Propranolol is the preferred pharmacological option, with amitriptyline being a third-line agent. Aspirin is only used for acute treatment of migraines, while sumatriptan is not recommended for long-term prevention.

Managing Migraines: Guidelines and Treatment Options

Migraines can be debilitating and affect a significant portion of the population. To manage migraines, it is important to understand the different treatment options available. The National Institute for Health and Care Excellence (NICE) has provided guidelines for the management of migraines.

For acute treatment, a combination of an oral triptan and an NSAID or paracetamol is recommended as first-line therapy. For young people aged 12-17 years, a nasal triptan may be preferred. If these measures are not effective or not tolerated, a non-oral preparation of metoclopramide or prochlorperazine may be offered, along with a non-oral NSAID or triptan.

Prophylaxis should be considered if patients are experiencing two or more attacks per month. NICE recommends either topiramate or propranolol, depending on the patient’s preference, comorbidities, and risk of adverse events. Propranolol is preferred in women of childbearing age as topiramate may be teratogenic and reduce the effectiveness of hormonal contraceptives. Acupuncture and riboflavin may also be effective in reducing migraine frequency and intensity.

For women with predictable menstrual migraines, frovatriptan or zolmitriptan may be used as a type of mini-prophylaxis. Specialists may also consider candesartan or monoclonal antibodies directed against the calcitonin gene-related peptide (CGRP) receptor, such as erenumab. However, pizotifen is no longer recommended due to common adverse effects such as weight gain and drowsiness.

It is important to exercise caution with young patients as acute dystonic reactions may develop. By following these guidelines and considering the various treatment options available, migraines can be effectively managed and their impact on daily life reduced.

Myasthenia gravis is an autoimmune disorder that results in muscle weakness and fatigue, particularly in the eyes, face, neck, and limbs. It is more common in women and is associated with thymomas and other autoimmune disorders. Diagnosis is made through electromyography and testing for antibodies to acetylcholine receptors. Treatment includes acetylcholinesterase inhibitors and immunosuppression, and in severe cases, plasmapheresis or intravenous immunoglobulins may be necessary.

When patients with chest wall or neuromuscular disease experience type 2 respiratory failure, non-invasive ventilation (NIV) should be the preferred treatment. This is especially true for patients with diaphragmatic weakness caused by motor neurone disease, as evidenced by a respiratory acidosis and a PaO2 level below 8 kPa. If hypoxaemia persists despite NIV, additional LTOT may be necessary.

Managing Motor Neuron Disease

Motor neuron disease is a neurological condition that affects both upper and lower motor neurons. It typically presents after the age of 40 and can manifest in different patterns, such as amyotrophic lateral sclerosis, progressive muscular atrophy, and bulbar palsy. While the cause of the disease is unknown, there are several management strategies that can help improve the patient’s quality of life and prolong survival.

One such strategy is the use of riluzole, which prevents the stimulation of glutamate receptors and is mainly used in amyotrophic lateral sclerosis. Studies have shown that it can prolong life by about three months. Respiratory care is also crucial, and non-invasive ventilation, usually BIPAP, is used at night. This has been shown to provide a survival benefit of around seven months.

Nutrition is another important aspect of managing motor neuron disease, and the preferred method of support is through a percutaneous gastrostomy tube (PEG). This has been associated with prolonged survival. However, despite these management strategies, the prognosis for motor neuron disease remains poor, with 50% of patients dying within three years.

The patient has experienced a new ischaemic stroke and her NIHSS score and timely presentation make her a candidate for thrombolysis. However, it is important to identify any contraindications to this treatment. In this case, the patient’s recent refusal of carotid surgery is not a contraindication, but a recent stroke or head trauma within the past 3 months is. The appropriate course of action would be to administer 300mg aspirin and consider starting anticoagulation after 14 days, or sooner in patients with a low risk of haemorrhagic transformation. Clopidogrel 75mg is preferred after 14 days following an ischaemic stroke.

The Royal College of Physicians (RCP) and NICE have published guidelines on the diagnosis and management of patients following a stroke. The guidelines provide recommendations for the management of acute stroke, including maintaining normal levels of blood glucose, hydration, oxygen saturation, and temperature. Blood pressure should not be lowered in the acute phase unless there are complications. Aspirin should be given as soon as possible if a haemorrhagic stroke has been excluded. Anticoagulants should not be started until brain imaging has excluded haemorrhage, and usually not until 14 days have passed from the onset of an ischaemic stroke. If the cholesterol is > 3.5 mmol/l, patients should be commenced on a statin.

Thrombolysis with alteplase should only be given if it is administered within 4.5 hours of onset of stroke symptoms and haemorrhage has been definitively excluded. There are absolute and relative contraindications to thrombolysis, including previous intracranial haemorrhage, intracranial neoplasm, and active bleeding. Mechanical thrombectomy is a new treatment option for patients with an acute ischaemic stroke. NICE recommends considering thrombectomy together with intravenous thrombolysis for people last known to be well up to 24 hours previously.

Secondary prevention recommendations from NICE include the use of clopidogrel and dipyridamole. Clopidogrel is recommended ahead of combination use of aspirin plus modified-release dipyridamole in people who have had an ischaemic stroke. Aspirin plus MR dipyridamole is recommended after an ischaemic stroke only if clopidogrel is contraindicated or not tolerated. MR dipyridamole alone is recommended after an ischaemic stroke only if aspirin or clopidogrel are contraindicated or not tolerated. Carotid artery endarterectomy should only be considered if carotid stenosis is greater than 70% according to ECST criteria or greater than 50% according to NASCET criteria.

Lyme Disease as a Differential Diagnosis for Multiple Cranial Neuropathies

This patient is experiencing multiple cranial neuropathies affecting both facial nerves and the right sixth nerve, along with flu-like symptoms and arthralgia. A lumbar puncture revealed a lymphocytic pleocytosis with intrathecal oligoclonal band production. Given the recent holiday in the New Forest, Lyme disease is a likely differential diagnosis.

Lyme disease has several phases, with the first being initial headache and neck stiffness. The second phase typically occurs between one to six months after infection and presents as meningitis, multiple cranial or peripheral neuropathies, or an acute polyneuropathy resembling Guillain-Barré syndrome. The third stage occurs months to years after infection and presents as a chronic myelitis, encephalopathy, or demyelinating disorder.

This presentation is not consistent with herpes simplex encephalitis, which typically presents with temporal features and has characteristic temporal lobe necrotising lesions on MRI scan. Guillain-Barré syndrome is a demyelinating polyradiculoneuropathy that can present with ocular dysfunction, but more commonly presents with a sensory-motor neuropathy and areflexia. A pontine infarct would typically present with pyramidal signs in the contralateral upper/lower limb, which is not seen in this case.

The patient is suffering from bilateral cerebellar haemangiomas, which are causing compression of the fourth ventricle and resulting in hydrocephalus. Symptoms include headache, vomiting, and papilloedema. The patient also has a history of retinal angiomas and has developed a renal cell carcinoma with secondary polycythaemia, as evidenced by a right flank mass, haematuria, and abnormal biochemistry. These symptoms are consistent with a diagnosis of von Hippel-Lindau disease (VHL), which is characterized by haemangioblastomas of the CNS or retina and the presence of one associated VHL tumour (renal cell carcinoma, islet cell tumours, and adenomas). Phenytoin toxicity can cause ataxia, headache, and vomiting, but it does not explain the systemic signs and symptoms. Tuberous sclerosis is characterized by seizures, retinal hamartomas, and calcified tubers on imaging, and in some cases, patients can develop cerebellar astrocytomas and renal cell carcinomas. Neurofibromatosis type 2 causes acoustic schwannomas and meningiomas, with fewer skin stigmata compared to type 1.

Behçet’s Disease vs. Other Differential Diagnoses

Behçet’s disease is a possible diagnosis for a patient presenting with oral ulcers, uveitis, and neurological inflammation affecting the cerebral hemispheres and pons. This disease can result in cranial nerve palsies and corticospinal tract involvement, as well as systemic inflammation. Other clues to this diagnosis include Mediterranean origin, erythema nodosum, and arthralgia. The patient’s CSF may show elevated protein with a lymphocytosis and negative oligoclonal bands.

When considering differential diagnoses, it is important to rule out herpes simplex encephalitis, which typically presents with temporal lobe features and a depressed conscious level. Reactive arthritis is another possibility, but it does not involve neurological sequelae. Multiple sclerosis may present with cranial nerve palsies and cortical lesions, but it would be difficult to explain the systemic features in this patient, and oligoclonal bands would be expected in the CSF. Neurosarcoidosis is also a differential diagnosis, but thoracic involvement is typically present, and oligoclonal bands are often positive.

In summary, Behçet’s disease should be considered in a patient with the aforementioned symptoms and clinical features, and differential diagnoses should be carefully evaluated to rule out other possible conditions.

Posterior reversible leukoencephalopathy syndrome (PRES) can manifest as a sudden and severe headache, followed by confusion, seizures, and visual disturbances. CT scans and lumbar puncture results are typically normal or nearly normal. The most common causes of PRES are hypertensive encephalopathy (as seen in this case) and eclampsia, with hypertension being a common observation. Diagnosis is confirmed by the presence of vasogenic brain edema on MRI scans. PRES is often associated with reversible cerebrovascular vasoconstriction syndrome, which can be detected through angiography (although not in this case). While cerebral sinus thrombosis and pituitary apoplexy can also present with thunderclap headache and normal CT brain and LP results, the other clinical findings in this case do not support these diagnoses. Acute disseminated encephalomyelitis does not typically present with thunderclap headache.

Thunderclap Headache: A Sudden and Severe Pain

Thunderclap headache is a type of headache that is characterized by a sudden and severe pain that reaches its maximum intensity within seconds to minutes of onset. This type of headache can be caused by various medical conditions such as subarachnoid hemorrhage, cerebral venous sinus thrombosis, internal carotid artery dissection, pituitary apoplexy, reversible cerebral vasoconstriction syndrome, primary sexual headache, posterior reversible leucoencephalopathy syndrome, and acute hypertensive crisis.

To put it simply, thunderclap headache is a type of headache that comes on suddenly and is very intense. It can be caused by a variety of medical conditions, some of which are serious and require immediate medical attention.

Strachan’s syndrome is a nutritional disorder that was first observed in Jamaican sugarcane workers and later in Japanese POW camp prisoners. It is caused by a combination of B vitamin deficiencies and is characterized by painful peripheral neuropathy, optic atrophy, and sensorineural deafness. Unlike beriberi or pellagra, it does not resolve with replacement of B12 alone and can lead to blindness if left untreated. Hartnup’s disease, on the other hand, is an autosomal recessive amino acid disorder that presents in childhood with skin rash, emotional instability, and episodic cerebellar ataxia. Neuropathic beriberi is associated with Wernicke’s encephalopathy and bilateral lower limb parasthesias, but does not typically involve optic atrophy. Peroneal muscular atrophy, also known as Charcot-Marie-Tooth disease, is characterized by foot drop, weakness of distal lower limb muscles, high-arched feet, and hammer toes. Hereditary motor and sensory neuropathy type 3 is an autosomal dominant motor and sensory neuropathy that usually presents with calf muscle weakness before the age of 30.