Neurology Flashcards
What is the difference between ischaemia and infarction ?
Ischaemia refers to an inadequate blood supply.
Infarction refers to tissue death due to ischaemia.
Define a TIA
Temporary neurological dysfunction (lasting less than 24 hours) caused by ischaemia but without infarction.
What are Crescendo TIAs?
two or more TIAs within a week and indicate a high risk of stroke
State 5 risk factors for stroke
Previous stroke or TIA
Atrial fibrillation
Carotid artery stenosis
Hypertension
Diabetes
Raised cholesterol
Family history
Smoking
Obesity
Vasculitis
Thrombophilia
Combined contraceptive pill
What does the FAST tool stand for?
F – Face
A – Arm
S – Speech
T – Time (act fast and call 999)
What is the ROSIER tool?
(Recognition Of Stroke In the Emergency Room) gives a score based on the clinical features and duration. Stroke is possible in patients scoring one or more.
What is the initial management of TIA?
Aspirin 300mg daily (started immediately)
Referral for specialist assessment within 24 hours (within 7 days if more than 7 days since the episode)
Diffusion-weighted MRI scan is the imaging investigation of choice.
What is the initial management of stroke?
Exclude hypoglycaemia
Immediate CT brain to exclude haemorrhage
Aspirin 300mg daily for two weeks (started after haemorrhage is excluded with a CT)
Thrombolysis with alteplase is considered once haemorrhage is excluded (after the CT scan).
consider thrombectomy
Admission to a specialist stroke centre
When can alteplase be given for stroke?
within 4.5 hours of the symptom onset
When is thrombectomy for stroke considered?
in patients with a confirmed blockage of the proximal anterior circulation or proximal posterior circulation. It may be considered within 24 hours of the symptom onset and alongside IV thrombolysis.
What investigations can be done to assess for underlying causes of stroke?
Carotid imaging (e.g., carotid ultrasound, or CT or MRI angiogram)
ECG or ambulatory ECG monitoring
What surgical interventions can be considered where there is significant carotid artery stenosis?
Carotid endarterectomy
Angioplasty and stenting
State 3 things that can be done for secondary prevention of stroke
Clopidogrel 75mg once daily (alternatively aspirin plus dipyridamole)
Atorvastatin 20-80mg (not started immediately – usually delayed at least 48 hours)
Blood pressure and diabetes control
Addressing modifiable risk factors (e.g., smoking, obesity and exercise)
What criteria is met in a total anterior circulation infarct?
- unilateral hemiparesis and/or hemisensory loss of the face, arm & leg
- homonymous hemianopia
- higher cognitive dysfunction e.g. dysphasia
Lacunar infarcts present with 1 of the following:
- unilateral weakness (and/or sensory deficit) of face and arm, arm and leg or all three.
- pure sensory stroke.
- ataxic hemiparesis
posterior circulation infarcts present with 1 of the following:
- cerebellar or brainstem syndromes
- loss of consciousness
- isolated homonymous hemianopia
how does lateral medullar syndrome/Wallenberg’s syndrome present?
ipsilateral: ataxia, nystagmus, dysphagia, facial numbness, cranial nerve palsy e.g. Horner’s
contralateral: limb sensory loss
What artery is involved in lateral medullar syndrome?
posterior inferior cerebellar artery
how does Weber’s syndrome present?
ipsilateral III palsy
contralateral weakness
what is the 1st line investigation for suspected stroke?
non-contrast CT head scan
how would a stroke present if the site of lesion was the anterior cerebral artery?
Contralateral hemiparesis and sensory loss, lower extremity > upper
How would a stoke where the lesion affected the basilar artery present?
‘locked-in’ syndrome
Where is the bleeding in an extradural haemorrhage?
between the skull and dura mater
Where is the bleeding in a subdural haemorrhage?
between the dura mater and arachnoid mater
Where is the bleeding in an intracerebral haemorrhage?
into brain tissue
where is the bleeding in a subarachnoid haemorrhage ?
subarachnoid space
State 4 risk factors for an intracranial bleed
Head injuries
Hypertension
Aneurysms
Ischaemic strokes (progressing to bleeding)
Brain tumours
Thrombocytopenia (low platelets)
Bleeding disorders (e.g., haemophilia)
Anticoagulants (e.g., DOACs or warfarin)
What are some presenting features an an intracranial bleed?
Sudden-onset headache
Seizures
Vomiting
Reduced consciousness
Focal neurological symptoms (e.g., weakness)
What GCS score would need airway support?
8/15
What is the usual cause of an extradural haemorrhage?
rupture of the middle meningeal artery in the temporoparietal region. It can be associated with a fracture of the temporal bone.
What is the appearance of an extradural haemorrhage on CT?
bi-convex shape and are limited by the cranial sutures
What is the typical history of an extradural haemorrhage?
young patient with a traumatic head injury and an ongoing headache. They have a period of improved neurological symptoms and consciousness, followed by a rapid decline over hours as the haematoma gets large enough to compress the intracranial contents.
What is the cause of a subdural haemorrhage?
rupture of the bridging veins
what does a subdural haemorrhage look like on CT?
crescent shape
what 2 groups of people are subdural haemorrhage’s more common in?
elderly
alcoholic
(due to more atrophy)
How does a intracerebral haemorrhage present?
sudden-onset focal neurological symptoms, such as limb or facial weakness, dysphasia or vision loss.
what can intracerebral haemorrhage’s occur secondary to?
ischaemic stroke
tumours
aneurysm rupture
what is the usual cause of a subarachnoid haemorrhage?
ruptured cerebral aneurysm
What is the typical history of a subarachnoid haemorrhage?
sudden-onset occipital headache (thunderclap) during strenuous activity, such as heavy lifting or sex.
What is the immediate investigation for an intracranial bleed?
CT head
What 2 bloods are needed in an intracranial bleed ?
FBC (for platelets)
Coagulation screen
What are the 2 surgical options for an extradural or subdural haematoma?
Craniotomy (open surgery by removing a section of the skull)
Burr holes (small holes drilled in the skull to drain the blood)
what are some risk factors particularly associated with SAH?
Family history
Cocaine use
Sickle cell anaemia
Connective tissue disorders (e.g., Marfan syndrome or Ehlers-Danlos syndrome)
Neurofibromatosis
Autosomal dominant polycystic kidney disease
Apart from sudden onset headache what are some other important features of a SAH?
Neck stiffness
Photophobia
Vomiting
Neurological symptoms (e.g., visual changes, dysphasia, focal weakness, seizures and reduced consciousness)
What with CT head show in a SAH?
hyper-attenuation in the subarachnoid space
when does a CT head become less reliable in diagnosing a SAH?
more than 6 hours after the start of symptoms
if there is a normal CT head in suspected SAH what other investigation should be done and when?
Lumbar puncture (at least 12 hours after start of symptoms)
What will a CSF sample show in SAH?
Raised red cell count
Xanthochromia (a yellow colour to the CSF caused by bilirubin)
What imaging is used to confirm the diagnosis of a SAH and locate the source of bleeding?
CT angiography
what are the 2 surgical interventions for a SAH?
endovascular coiling
neurosurgical clipping
What is the role of Nimodipine in SAH?
calcium channel blocker used to prevent vasospasm. Vasospasm is a common complication following a subarachnoid haemorrhage, resulting in brain ischaemia.
What 3 options are used to treat hydrocephalus post SAH?
Lumbar puncture
External ventricular drain
Ventriculoperitoneal (VP) shunt
What causes multiple sclerosis
chronic and progressive autoimmune condition involving demyelination in the central nervous system. The immune system attacks the myelin sheath of the myelinated neurones.
What is the epidemiology of multiple sclerosis?
young adults
W>M
What are the key features of optic neuritis?
Central scotoma (an enlarged central blind spot)
Pain with eye movement
Impaired colour vision
Relative afferent pupillary defect
Other than MS state 3 other causes of optic neuritis
Sarcoidosis
Systemic lupus erythematosus
Syphilis
Measles or mumps
Neuromyelitis optica
Lyme disease
What is the treatment of optic neuritis ?
high dose steroids
What focal weakness symptoms may MS present with?
Incontinence
Horner syndrome
Facial nerve palsy
Limb paralysis
What focal sensory symptoms may MS present with?
Trigeminal neuralgia
Numbness
Paraesthesia (pins and needles)
Lhermitte’s sign
What is Lhermitte’s sign?
electric shock sensation that travels down the spine and into the limbs when flexing the neck. It indicates disease (demyelination) in the cervical spinal cord in the dorsal column.
What is Transverse myelitis?
a site of inflammation in the spinal cord
What are the different disease patterns of multiple sclerosis?
Clinically isolated syndrome
Relapsing-remitting
Secondary progressive
Primary progressive
What investigations are used to support a diagnosis of multiple sclerosis?
MRI scans can demonstrate typical lesions
Lumbar puncture can detect oligoclonal bands in the cerebrospinal fluid (CSF)
How are relapses of multiple sclerosis treated?
steroids
500mg orally daily for 5 days
1g intravenously daily for 3–5 days (where oral treatment has previously failed or where relapses are severe)
What is the most common type of motor neurone disease?
Amyotrophic lateral sclerosis (ALS)
state 4 types of motor neurone disease
Amyotrophic lateral sclerosis (ALS)
Progressive bulbar palsy
progressive muscular atrophy
Primary lateral sclerosis
What is the pathophysiology of motor neurone disease?
progressive degeneration of both the upper and lower motor neurones
What are some signs of lower motor neurone disease ?
Muscle wasting
Reduced tone
Fasciculations (twitches in the muscles)
Reduced reflexes
What are some signs of upper motor neurone disease?
Increased tone or spasticity
Brisk reflexes
Upgoing plantar reflex
What medication can sloe progression of ALS?
Riluzole
What can be used to support breathing in MND?
Non-invasive ventilation (NIV)
What are the main causes of death in MND?
respiratory failure or pneumonia
What is the classic triad of symptoms in Parkinson’s disease ?
Resting tremor
Rigidity
Bradykinesia
What is the pathophysiology of Parkinson’s disease?
progressive reduction in dopamine in the basal ganglia
What different ways may bradykinesia present in Parkinson’s ?
micrographia (small handwriting)
shuffling gait
difficulty initiating movements
hypomimia
Apart from the classic triad what are some other features of Parkinson’s disease?
Depression
Sleep disturbance and insomnia
Loss of the sense of smell (anosmia)
Postural instability (increasing the risk of falls)
Cognitive impairment and memory problems
How can you differentiate between a Parkinson’s tremor and a benign essential tremor?
Parkinson’s = asymmetrical, 4-6Hz, worse at rest, improves with movement, other Parkinson’s features, no change with alcohol
Benign essential tremor = symmetrical, 6-12 Hz, improves at rest, worse with intentional movement, no other Parkinson’s features, improves with alcohol
Name 4 Parkinson’s-plus syndromes
Multiple system atrophy
Dementia with Lewy bodies
Progressive supranuclear palsy
Corticobasal degeneration
what are the features of multiple system atrophy
Parkinson’s symptoms
autonomic dysfunction - postural hypotension, constipation, abnormal sweating, sexual dysfunction
cerebella dysfunction - ataxia
what are the associated features of dementia with Lewy bodies?
visual hallucinations, delusions, REM sleep disorders and fluctuating consciousness
How is Parkinson’s disease diagnosed ?
clinical diagnosis
Name 4 treatment options for Parkinson’s disease
Levodopa (combined with peripheral decarboxylase inhibitors)
COMT inhibitors
Dopamine agonists
Monoamine oxidase-B inhibitors
Name an example of levodopa combined with a peripheral decarboxylase inhibitor
Co-beneldopa (levodopa and benserazide), with the trade name Madopa
Co-careldopa (levodopa and carbidopa), with the trade name Sinemet
What is the main side effect of levodopa?
Dyskinesia - dystonia, chorea, athetosis
What drug can be given to manage dyskinesia associated with levodopa ?
Amantadine (glutamate antagonist)
Name an example of a COMT Inhibitor
entacapone
What are dopamine agonists used for in Parkinson’s and name 2 examples
typically used to delay the use of levodopa, then used in combination with levodopa to reduce the required dose e.g.
Bromocriptine
Pergolide
Cabergoline
What is the most notable side effect with prolonged use of dopamine agonists
Pulmonary fibrosis
State 2 examples of Monoamine oxidase-B inhibitors
Selegiline
Rasagiline
What are some characteristic features of a benign essential tremor?
Fine tremor (6-12 Hz)
Symmetrical
More prominent with voluntary movement
Worse when tired, stressed or after caffeine
Improved by alcohol
Absent during sleep
state 2 medications that may improve the symptoms of a benign essential tremor
Propranolol
Primidone
What is a seizure?
transient episodes of abnormal electrical activity in the brain
what are the types of seizures generally seen in adults?
Generalised tonic-clonic seizures
Partial seizures (or focal seizures)
Myoclonic seizures
Tonic seizures
Atonic seizures
what syndrome are atonic seizures indicative of?
Lennox-Gastaut syndrome
What are generalised tonic-clonic seizures?
tonic (muscle tensing) and clonic (muscle jerking) movements associated with a complete loss of consciousness
What are some associated symptoms of partial (focal) seizures?
Déjà vu
Strange smells, tastes, sight or sound sensations
Unusual emotions
Abnormal behaviours
What are some differentials for seizures?
Vasovagal syncope (fainting)
Pseudoseizures (non-epileptic attacks)
Cardiac syncope (e.g., arrhythmias or structural heart disease)
Hypoglycaemia
Hemiplegic migraine
Transient ischaemic attack
What investigations may be done for epilepsy?
Electroencephalogram (EEG)
What safety precautions should be advised to someone with epilepsy?
The DVLA will remove their driving licence until specific criteria are met (e.g., being seizure-free for one year)
Taking showers rather than baths (drowning is a major risk in epilepsy)
Particular caution with swimming, heights, traffic and dangerous equipment
What are the 1st line drugs for generalised tonic-clonic epilepsy?
1st: sodium vaproate
women able to have children = Lamotrigine or levetiracetam
What are the 1st line drugs for partial epilepsy?
Lamotrigine or levetiracetam
What are the 1st line drugs for myoclonic epilepsy?
Sodium valproate
Levetiracetam in women able to have children
What are the 1st line drugs for tonic and atonic epilepsy?
sodium valproate
Lamotrigine in women able to have children
What is the 1st line drug for absence seizures?
Ethosuximide
What is the mechanism of action of sodium valproate ?
increasing the activity of gamma-aminobutyric acid (GABA)
What are some side effects of sodium valproate?
Teratogenic (harmful in pregnancy)
Liver damage and hepatitis
Hair loss
Tremor
Reduce fertility
How is status epilepticus defined?
A seizure lasting more than 5 minutes
Multiple seizures without regaining consciousness in the interim
What is the management of status epilepticus?
ABCDE
1st: benzodiazepine repeated after 5-10 minutes
2nd: IV levetiracetam, phenytoin, sodium valproate
3rd: phenobarbital or general anaesthesia
What are the options for benzodiazepines in status epilepticus?
Buccal midazolam (10mg)
Rectal diazepam (10mg)
Intravenous lorazepam (4mg)
what are the 2 categories of pain?
Acute pain – new onset of pain
Chronic pain – pain present for 3 months or more
state 2 types of nerve fibres that transmit pain
C fibres (unmyelinated and small diameter) – transmit signals slowly and produce dull and diffuse pain sensations
A-delta fibres (myelinated and larger diameter) – transmit signals fast and produce sharp and localised pain sensations
What are the steps of the WHO analgesic ladder?
Step 1: Non-opioid medications such as paracetamol and NSAIDs
Step 2: Weak opioids such as codeine and tramadol
Step 3: Strong opioids such as morphine, oxycodone, fentanyl and buprenorphine
what are some key side effects of NSAIDs?
Gastritis with dyspepsia (indigestion)
Stomach ulcers
Exacerbation of asthma
Hypertension
Renal impairment
Coronary artery disease, heart failure and strokes (rarely)
what are some key side effects of opioids?
Constipation
Skin itching (pruritus)
Nausea
Altered mental state (sedation, cognitive impairment or confusion)
Respiratory depression
How do you calculate the rescue dose of opioids in palliative care?
1/6 of the 24-hour background dose
what are the typical features of neuropathic pain?
numbness, burning, tingling, pins and needles or an electric shock sensation
state 3 causes of neuropathic pain
Post-herpetic neuralgia from shingles
Nerve damage from surgery
Multiple sclerosis
Diabetic neuralgia
Trigeminal neuralgia
Complex regional pain syndrome
what is the DN4 questionnaire used for?
assess the characteristics of the pain and the likelihood of neuropathic pain
what are the features of complex regional pain syndrome?
neuropathic pain, abnormal sensations and skin changes. It is often triggered by an injury and isolated to one limb
pain associated with normal sensations (allodynia)
what are the 5 branches of the facial nerve?
Temporal
Zygomatic
Buccal
Marginal mandibular
Cervical
what does the facial nerve provide motor function for?
Facial expression
Stapedius in the inner ear
Posterior digastric, stylohyoid and platysma muscles
what does the facial nerve provide sensory function for?
taste from the anterior 2/3 of the tongue
what does the facial nerve supply parasympathetic supply to?
Submandibular and sublingual salivary glands
Lacrimal gland (stimulating tear production)
how can you tell between a UMN lesion and LMN lesion of the facial nerve?
forehead will be spared in an upper motor neurone lesion so the patient can move their forehead on the affected side. In a lower motor neurone lesion, the forehead is not spared, and the patient cannot move their forehead on the affected side.
state 2 causes of UMN lesions of the facial nerve
Cerebrovascular accidents (strokes)
Tumours
how does Bell’s Palsy present?
unilateral lower motor neurone facial nerve palsy.
what proportion of patients with Bell’s Palsy are left with some residual weakness?
1/3
what is the management of bells palsy?
prednisolone (if present within 72hrs, 50mg for 10 days or 60mg for 5 days followed by a 5-day reducing regime, dropping the dose by 10mg per day )
lubricating eye drops, tape closed at night
What is the cause of Ramsay-Hunt syndrome?
varicella zoster virus (VZV)
what are the characteristic symptoms of Ramsay-Hunt syndrome?
unilateral lower motor neurone facial nerve palsy
painful and tender vesicular rash in the ear canal
what is the treatment of Ramsay hunt syndrome?
aciclovir and prednisolone
How do brain tumours present?
progressive focal neurological symptoms
signs of raised intracranial pressure
state 3 causes of raised intracranial pressure?
Brain tumours
Intracranial haemorrhage
Idiopathic intracranial hypertension
Abscesses or infection
What are some features which may indicate intracranial hypertension?
Constant headache
Nocturnal (occurring at night)
Worse on waking
Worse on coughing, straining or bending forward
Vomiting
Papilloedema on fundoscopy
Altered mental state
Visual field defects
Seizures (particularly partial seizures)
Unilateral ptosis (drooping upper eyelid)
Third and sixth nerve palsies
what are the signs of papilledema on fundoscopy?
Blurring of the optic disc margin
Elevated optic disc
Loss of venous pulsation
Engorged retinal veins
Haemorrhages around the optic disc
Paton’s lines, which are creases or folds in the retina around the optic disc
What are the 3 main types of gliomas?
Astrocytoma (the most common and aggressive form is glioblastoma)
Oligodendroglioma
Ependymoma
what are the most common cancers that can spread to the brain?
Lung
Breast
Renal cell carcinoma
Melanoma
what affect can a pituitary tumour have?
bitemporal hemianopia
hormone excess/deficiency -> acromegaly, hyperprolactinaemia, cushings, thyrotoxicosis
what are acoustic neuromas?
benign tumours of the Schwann cells that surround the auditory nerve (vestibulocochlear nerve)
where do acoustic neuromas occur?
cerebellopontine angle
what condition are bilateral acoustic neuromas associated with?
neurofibromatosis type 2
what are the presenting features of an acoustic neuroma?
Unilateral sensorineural hearing loss
Unilateral tinnitus
Dizziness or imbalance
Sensation of fullness in the ear
Facial nerve palsy (if the tumour grows large enough to compress the facial nerve)
what is the first line investigation for a suspected brain tumour?
MRI
what gives a definitive histological diagnosis of a brain tumour?
biopsy
state 3 management options for brain tumours
Surgery
Chemotherapy
Radiotherapy
Palliative care
What is the inheritance pattern of Huntington’s disease?
autosomal dominant
What mutation causes Huntington’s disease?
trinucleotide repeat disorder in the HTT gene on chromosome 4, which codes for the huntingtin protein
At what age do symptoms of Huntington’s usually present?
30-50
Name 3 trinucleotide repeat disorders
Huntington’s disease
Fragile X syndrome Spinocerebellar ataxia
What is Anticipation ?
feature of trinucleotide repeat disorders, where successive generations have more repeats in the gene, resulting in:
Earlier age of onset
Increased severity of disease
what symptoms does Huntington’s usually present with?
cognitive, psychiatric or mood problems, followed by the development of movement disorders
Name 4 movement disorders in Huntington’s disease
Chorea (involuntary, random, irregular and abnormal body movements)
Dystonia (abnormal muscle tone, leading to abnormal postures)
Rigidity (increased resistance to the passive movement of a joint)
Eye movement disorders
Dysarthria (speech difficulties)
Dysphagia (swallowing difficulties)
How is a diagnosis of Huntington’s disease made?
genetic testing
give 4 aspects of management in Huntington’s disease
Genetic counselling
Physiotherapy
speech and language therapy
Tetrabenazine (chorea)
Antidepressants
State 2 common causes of death in Huntington’s disease
Aspiration pneumonia
Suicide
What condition has a strong link with thymomas?
Myasthenia Gravis
What antibodies are found in most patients with myasthenia gravis?
Acetylcholine receptor (AChR) antibodies
Name 2 other antibodies besides AChR that are present in myasthenia gravis
Muscle-specific kinase (MuSK) antibodies
Low-density lipoprotein receptor-related protein 4 (LRP4) antibodies
What is the critical feature of myasthenia gravis?
weakness that worsens with muscle use and improves with rest.
Symptoms of Myasthenia gravis affect which muscles the most?
proximal muscles of the limbs and small muscles of the head and neck
How can you elicit fatiguability of muscles in myasthenia gravis?
Repeated blinking will exacerbate ptosis
Prolonged upward gazing will exacerbate diplopia on further testing
Repeated abduction of one arm 20 times will result in unilateral weakness when comparing both sides
state 3 antibodies tested for in myasthenia gravis
AChR antibodies (around 85%)
MuSK antibodies (less than 10%)
LRP4 antibodies (less than 5%)
what test can be done if there is doubt over a diagnosis of myasthenia gravis?
edrophonium test
What are the treatment options for myasthenia gravis?
Pyridostigmine (cholinesterase inhibitor)
immunosuppression (e.g. prednisolone)
Thymectomy
Rituximab
What is the management of myasthenic crisis?
IV immunoglobulins and plasmapheresis
May require NIV or mechanical ventilation
what is the pathophysiology of Lambert-Eaton myasthenic syndrome?
antibodies against voltage-gated calcium channels. These antibodies may be produced in response to small-cell lung cancer (SCLC) cells that express voltage-gated calcium channels. They target and damage voltage-gated calcium channels in the presynaptic membrane of the neuromuscular junction.
state 3 key presenting features of Lambert-Eaton myasthenic syndrome
Proximal muscle weakness
Autonomic dysfunction
Reduced or absent tendon reflexes
what is the difference is symptoms of myasthenia gravis and lambert-Eaton syndrome?
Signs and symptoms improve after periods of muscle contraction in Lambert-Eaton
How should Lambert-Eaton be managed?
exclude underlying SC lung cancer
Amifampridine (blocks voltage gated K channels)
How are the majority of mutations in Charcot-Marie-Tooth disease inherited?
autosomal dominant
When do symptoms of Charcot-Marie-Tooth disease usually arise?
usually start to appear before the age of 10 but can be delayed until 40 or later.
What are some classical features of Charcot-Marie-Tooth disease?
High foot arches (pes cavus)
Distal muscle wasting
Lower leg weakness, particularly loss of ankle dorsiflexion (with a high stepping gait due to foot drop)
Weakness in the hands
Reduced tendon reflexes
Reduced muscle tone
Peripheral sensory loss
What are some management options for Charcot-Marie-Tooth?
physio
OT
Podiatrists
Analgesia
What infections are associated with Guillain-Barre syndrome?
Campylobacter jejuni, cytomegalovirus (CMV) and Epstein-Barr virus (EBV).
when do symptoms start and peak in Guillain-Barre?
Symptoms usually start within four weeks of the triggering infection. They begin in the feet and progress upward. Symptoms peak within 2-4 weeks. Then, there is a recovery period that can last months to years.
What are the characteristic features of Guillain-Barre syndrome?
Symmetrical ascending weakness
Reduced reflexes
others: neuropathic pain, loss of sensation
what criteria is used to diagnose Guillain-Barre syndrome?
Brighton criteria
What 2 investigations are used to diagnose Guillain-Barre syndrome and what would they show?
Nerve conduction studies (showing reduced signal through the nerves)
Lumbar puncture for cerebrospinal fluid (showing raised protein with a normal cell count and glucose)
What is the management of Guillain-Barre syndrome?
Supportive care
VTE prophylaxis (pulmonary embolism is a leading cause of death)
IV immunoglobulins (IVIG) first-line
Plasmapheresis is an alternative to IVIG
What is neurofibromatosis ?
Genetic condition that causes nerve tumours (neuromas) to develop throughout the nervous system. These tumours are benign but can cause neurological and structural problems.
What is more common Neurofibromatosis 1 or 2 ?
1
what is the mutation and inheritance of neurofibromatosis type 1?
chromosome 17, neurofibromin protein
autosomal dominant
what are the diagnostic criteria for neurofibromatosis type 1 ?
C – Café-au-lait spots (more than 15mm diameter is significant in adults)
R – Relative with NF1
A – Axillary or inguinal freckling
BB – Bony dysplasia, such as Bowing of a long bone or sphenoid wing dysplasia
I – Iris hamartomas (Lisch nodules), which are yellow-brown spots on the iris
N – Neurofibromas
G – Glioma of the optic pathway
What are some complications of neurofibromatosis type 1?
Migraines
Epilepsy
Renal artery stenosis, causing hypertension
Learning disability
Behavioural problems (e.g., ADHD)
Scoliosis of the spine
Vision loss (secondary to optic nerve gliomas)
Malignant peripheral nerve sheath tumours
Gastrointestinal stromal tumour
Brain tumours
Spinal cord tumours with associated neurology
Increased risk of cancer
what is the mutation and inheritance of neurofibromatosis type 2?
chromosome 22, merlin protein
autosomal dominant
what is neurofibromatosis type 2 particularly associated with?
acoustic neuromas
what is the inheritance pattern of Tuberous sclerosis?
autosomal dominant
What is the characteristic feature of Tuberous Sclerosis?
Hamartomas
What mutations cause tuberous sclerosis?
TSC1 gene on chromosome 9, which codes for hamartin
TSC2 gene on chromosome 16, which codes for tuberin
What are some skin features of Tuberous Sclerosis?
Ash leaf spots (depigmented areas of skin)
Shagreen patches (thickened, dimpled, pigmented patches of skin)
Angiofibromas (small skin-coloured or pigmented papules that occur over the nose and cheeks)
Ungual fibromas (circular painless lumps that slowly grow from the nail bed and displace the nail)
Cafe-au-lait spots (light brown “coffee and milk” coloured flat pigmented lesions on the skin)
Poliosis (an isolated patch of white hair on the head, eyebrows, eyelashes or beard)
what are some neurological features of tuberous sclerosis?
Epilepsy
Learning disability
Brain tumours
what are some non skin or neurological symptoms of tuberous sclerosis?
Rhabdomyomas in the heart
Angiomyolipoma in the kidneys
Lymphangioleiomyomatosis in the lungs
Subependymal giant cell astrocytoma in the brain
Retinal hamartomas in the eyes
in specific circumstances what medication can be used to supress growth of tumours in tuberous sclerosis?
mTOR inhibitors (e.g., everolimus or sirolimus)
what are some key red flags associated with a headache?
Fever, photophobia or neck stiffness (meningitis, encephalitis or brain abscess)
New neurological symptoms (haemorrhage or tumours)
Visual disturbance (giant cell arteritis, glaucoma or tumours)
Sudden-onset occipital headache (subarachnoid haemorrhage)
Worse on coughing or straining (raised intracranial pressure)
Postural, worse on standing, lying or bending over (raised intracranial pressure)
Vomiting (raised intracranial pressure or carbon monoxide poisoning)
History of trauma (intracranial haemorrhage)
History of cancer (brain metastasis)
Pregnancy (pre-eclampsia)
What factors may be associated with tension headaches?
Stress
Depression
Alcohol
Skipping meals
Dehydration
what is the first line medication in trigeminal neuralgia?
carbamazepine
What are the 5 stages of a migraine?
Premonitory or prodromal stage (can begin several days before the headache)
Aura (lasting up to 60 minutes)
Headache stage (lasts 4 to 72 hours)
Resolution stage (the headache may fade away or be relieved abruptly by vomiting or sleeping)
Postdromal or recovery phase
what are the typical features of a migraine ?
Usually unilateral but can be bilateral
Moderate-severe intensity
Pounding or throbbing in nature
Photophobia (discomfort with lights)
Phonophobia (discomfort with loud noises)
Osmophobia (discomfort with strong smells)
Aura (visual changes)
Nausea and vomiting
what are some migraine triggers?
Stress
Bright lights
Strong smells
Certain foods (e.g., chocolate, cheese and caffeine)
Dehydration
Menstruation
Disrupted sleep
Trauma
what are the medical options for a migraine?
NSAIDs (e.g., ibuprofen or naproxen)
Paracetamol
Triptans (e.g., sumatriptan)
Antiemetics if vomiting occurs (e.g., metoclopramide or prochlorperazine)
what prophylactic medications can be given for migraines?
Propranolol (a non-selective beta blocker)
Amitriptyline (a tricyclic antidepressant)
Topiramate (teratogenic and very effective contraception is needed)
what are the associated symptoms of a cluster headache
Red, swollen and watering eye
Pupil constriction (miosis)
Eyelid drooping (ptosis)
Nasal discharge
Facial sweating
what are the treatment options for an acute attack of cluster headaches?
Triptans
High-flow 100% oxygen
What is the first line prophylaxis for cluster headaches?
Verapamil
