Neurology Flashcards
Name the excitatory neurotransmitters
Acetylcholine, noradrenaline, adrenaline, serotonin, dopamine, glutamate, aspartate
Name the inhibitory neurotransmitters
GABA, histamine and glycine
Name the inhibitory/excitatory neuropeptides
Vasopressin, ACTH, opioid peptides, ATP, AMP
What area of the brain is affected in aphasia
left frontal lobe
What area of the brain is affected in hemiparesis
internal capsule
What cranial nerve is affected in Bells palsy
12th
What is the effect of a destructive cortical lesion in the frontal lobe (either side)
Intellectual impairment, personality change, Urinary incontinence, Mono or hemiparesis
What is the effect of a destructive cortical lesion in the left frontal lobe
Brocas aphasia
What is the effect of a destructive cortical lesion in the left tempero-parietal lobe
Acalculia, Alexia, Agraphia, Wernickes aphasia, Right-left disorientation, homonymous field defect
What is the effect of a destructive cortical lesion in the right temporal lobe
Confusional state, homonymous field defect, cant recognise faces
What is the effect of a destructive cortical lesion in the parietal lobe (either side)
Contralateral sensory loss, Agraphaesthesia, Homonymous field defect
What is the effect of a destructive cortical lesion in the right parietal lobe
Dressing apraxia, failure to recognise faces
What is the effect of a destructive cortical lesion in the left parietal lobe
Limb apraxia
What is the effect of a destructive cortical lesion in the occipital/occipitoparietal lobe
Visual field defects, visuospatial defects, disturbance of visual recognition
What is the effect of an irritative cortical lesion in the frontal lobes
Partial seizures, focal motor seizures of the contralateral limb, Conjugate deviation of the head and eyes away from the side of the lesion
What is the effect of an irritative cortical lesion on the temporal lobes
Formed visual hallucination, complex partial seizures, memory disturbance
What is the effect of an irritative cortical lesion in the parietal lobe
Partial seizures-focal sensory seizures of the contralateral limb
What is the effect of an irritative cortical lesion in the parieto-occipital lobe
Crude visual hallucinations
What is the effect of an irritative cortical lesion in the occipital lobe
Visual disturbance (e.g. flashing)
What is Brocas aphasia
Damage in the left frontal lobe causes reduced speech fluency but preserved comprehension - cant construct sentences but know what they want to say
What is Wernickes aphasia
Left temporo-parietal damage leaves fluency of language but words are muddled - patients describe finding speech unintelligible
What is nominal aphasia
Difficulty in naming objects. An early feature in all types of aphasia
What is global aphasia
Combo of expressive problems of Brocas and loss of comprehension seen in Wernickes. Loss of language production and understanding
What is Dysarthria
Disordered articulation - slurred speech
Causes of anosmia
head injury, tumour (meningioma), URTI, Parkinsons
What causes mononuclear field loss
Complete optic nerve lesion
What causes bitemporal hemianopia
chiasmal lesion
What causes homonymous hemianopia
optic tract lesion
What causes homonymous quadrantanopia
temporal or parietal lesion
What causes homonymous hemianopia with macular sparing
occipital cortex or optic radiation
What causes homonymous hemianopia (hemiscotoma)
Occipital pole lesion
What is papilloedema
Swelling of the optic disc
Explain afferent pupillary defect (APD)
Complete optic nerve lesion causes a dilated pupil and APD. Pupil is unreactive to light (absent direct reflex) and the consensual reflex is absent. The consensual reflex is preserved when light is shone into the affected eye
Explain relative afferent pupillary defect (RAPD)
Incomplete damage to one optic nerve relative to the other. Direct and indirect reflexes are intact but differ in relative strength. When light is swung the left will dilate slightly when illuminated and constrict slightly when right is illuminated (consensual reflex stronger than direct)
What can disrupt blood supply in an ischaemic stroke
thrombus or embolus, atheroscleosis, shock, vasculitis
What is a transient ischaemic attack
temporary neurological dysfunction lasting less than 24 hours causing by ischaemia but without infarction. Rapid onset of Sx and often resolve before a pt is seen. May precede a stroke
What is a Crescendo TIA
Two or more TIA’s in a week and indicates a high risk of stroke
Are stroke symptoms symmetrical or asymmetrical
Asymmetrical
Common stroke Sx
Limb weakness, Facial weakness, Dysphasia, Visual field defect, Sensory loss, Ataxia and vertigo
RF for Stroke
Previous stroke or TIA, AF, Carotid artery stenosis, HTN, Diabetes, Raised cholesterol, FHx, Smoking, Obesity, Vasculitis, Thrombophilia, COCP
What is the FAST tool
Face, Arm, Speech, Time
What is the emergency room tool for stroke
ROSIER - Recognition of stroke in the emergency room. A score of one or more indicates a possible stroke
Management of a TIA
Aspirin 300mg daily
Refer for specialist assessment within 24 hours
Diffusion weighted MRI
Initial management of stroke
Exclude hypoglycaemia, Immediate CT head to exclude haemorrhage, Aspirin 300mg daily and admit to stroke centre
What is given once haemorrhage is excluded in stroke
Thrombolysis with alteplase
Alteplase class and moa
Tissue plasminogen activator that rapidly breaks down clots
Within how many hours can alteplase be given
4.5 hours
Who is considered for thrombectomy
Pt with confirmed blockage of the proximal anterior circulation or proximal posterior circulation and within 24 hours of onset alongside thrombolysis
Explain the assessement for the underlying cause of a stroke
Investigate for carotid artery stenosis and AF with carotid imaging and ECG. GIve anticoag if Dx with AF. Surgical interventions for carotid artery stenosis such as carotid endarterectomy, angioplasty and stenting
Secondary prevention for stroke
Clopidogrel 75mg once daily, atorvastatin 20-80mg, BP and diabetes control, address modifiable RF
Rehab for stroke pt
MDT approach
Stroke physicians, nurses, SALT, dietician, Physio, OT, Social services, Psych, Orthotics
What is an extradural haemorrhage
Bleeding between the skull and the dura
What is a subdural haemorrhage
Bleeding between the dura and arachnoid
What is an Intracerebral haemorrhage
Bleeding into the brain tissue
What is a subarachnoid haemorrhage
Bleeding in the subarachnoid space
RF for intracranial haemorrhage
Head injury, HTN, Aneurysm, Ischaemic stroke, tumour, thrombocytopenia, Bleeding disorder, Anticoags
Presentation of intracranial bleed
Sudden onset headache, seizures, vomiting, reduced consciousness, focal neuro Sx
What GCS score warrant airway support
8/15
What usually causes an extradural haemorrhage
rupture of the middle meningeal artery in the temporoparietal region or fracture of the temporal bone
Shape of extradural haemorrhage
Bi-convex shape limited by the cranial sutures
Typical Hx for an extradural haemorrhage
young pt with traumatic head injury and ongoing headache. Period of improved Sx followed by rapid decline as haematoma compresses intracranial contents
Cause of subdural haemorrhage
Rupture of bridging veins in the outermost meningeal layer
Subdural haemorrhage shape
crescent shape and not limited by cranial sutures
Subdural haemorrhage typical patient
elderly and alcoholic pt who have more atrophy in their brains
Intracerebral haemorrhage presentation
similar to a stroke with sudden onset focal neurological symptoms such as limb, facial weakness, dysphasia and vision loss
Where can intracerebral haemorrhage occur
anywhere in the brain e.g. lobar, deep, intraventricular, basal ganglia, cerebellar
Cause of subarachnoid haemorrhage
ruptured cerebral aneurysm
Subarachnoid haemorrhage presentation
Sudden-onset occiptal headache during strenuous activity, thunderclap headache description
Immediate investigation for intracranial bleed
CT head
Initial management of intracranial bleed
Admission to specialist stroke unit, consider surgery, consider intubation/vent/ICU, correct any clotting abnormality (eg platelets or vit K), correct severe HTN but avoid hypo
Surgical options for intracranial bleeds
Craniotomy, Burr holes
Mortality of subarachnoid haemorrhage
30%
RF for subarachnoid haemorrhage
Aged 45-70, women, black ethnicity
General RF for Subarachnoid Haemorrhage
HTN, smoking, excessive alcohol intake
What is subarachnoid haemorrhage associated with
FHx, Cocaine use, Sickle cell, connective tissue disorder, Neurofibromatosis, Autosomal dominant PKD
Presentation of Subarachnoid Haemorrhage
Neck stiffness, Photophobia, Vomiting, Neuro Sx
Ix for Subarachnoid Haemorrhage
CT head, blood will cause hyperattenuation in the subarachnoid space
Secondary Ix for subarachnoid haremorrhage
LP after 12 hours as bilirubin takes time to accumulate
Sample will show: Raised red cells, Xanthochromia
Management of Subarachnoid Haemorrhage
Specialist, intubate/vent, surgical intervention for aneurysm (endovascular coiling, clipping), give nimodipine to prevent vasospasm
Management for the complications of subarachnoid haeomorrhage
Hydrocephalus: LP, External ventricular drain, VP shunt
Treat seizures with antiepileptics
What is MS
A chronic and degenerative autoimmune condition involving demyelination in the CNS. Immune system attacks myelin sheath of myelinated neurones
Typical MS patient
Young adults under 50, more common in women
What cells provide myelin in the CNS and PNS
CNS - Oligodendrocytes
PNS - Schwann cells
Explain the characteristic pattern in MS
Lesions vary in location, meaning affected sites and Sx change over time. The lesions are described as ‘disseminated in time and space’. Early in the disease remyelination occurs and Sx can resolve but this stops in later stages with remyelination being incomplete
Causes of MS
Genetic
EBV
Low Vit D
Smoking
Obesity
Onset of Sx in MS
Progress over more than 24 hours. Sx last days to weeks at first presentation and then improve
What is the most common presentation in MS
Optic neuritis - demyelination of the optic nerve - presents with unilateral reduced vision
Key features of optic neuritis
Central scotoma, Pain with eye movement, Impaired colour vision, Relative afferent pupillary defect
What are some other causes of optic neuritis
Sarcoidosis, SLE, Syphilis, Measles and mumps, Neuromyelitis Optica, Lyme
Tx for optic neuritis
High dose steroids
What lesions cause double vision (diplopia) and nystagmus?
Lesions to CN3, CN4 and CN6
Where is the lesion in internuclear opthalmoplegia
Medial longitudinal fasciculus
Explain internuclear opthalmoplegia
The nerve fibres of the medial internuclear fasciculus connect the CN nuclei that control eye movements. A lesion here causes impaired adduction on the same side as the lesion and nystagmus in the contralateral abducting eye
What does a lesion in CN6 cause?
Conjugate lateral gaze disorder
What is conjugate lateral gaze disorder
Both eyes look laterally to the left or right, when looking laterally in the direction of the affected eye then the affected eye will not be able to abduct
Examples of focal weakness seen in MS
Incontinence, Horners, Facial nerve palsy, Limb paralysis
Examples of focal sensory Sx in MS
Trigeminal Neuralgia, Numbness, Paraesthesia, Lhermittes sign
What is Lhermittes sign
Electric shock sensation that travels sown the spine into the limbs when flexing the neck. Indicates disease in the dorsal column
What is transverse myelitis
A site of inflammation in the spinal cord
Explain sensory ataxia
Due to loss of proprioception. This results in a +ve Rombergs test (lose balance when standing with their eyes closed) and can cause pseudoathetosis (involuntary writhing movements). A lesion in the dorsal columns of the spine can cause sensory ataxia
What is Clinically isolated syndrome in MS
First episode of demyelination and neuro Sx. Patients may never have another episode or go on to develop MS. MRI lesions can suggest whether they are likely to progress to MS
What is Relapsing-Remitting MS?
Most common pattern. Characterised by episodes of disease and Sx and then recovery. The Sx occur in different areas with each episode
Classification of relapsing-remitting MS
Active or Worsening:
Active: new Sx are developing or new lesions on MRI
Not Active: No new Sx or MRI lesions
Worsening: Overall worsening of disability over time
Not Worsening: no worsening of disability over time
What is secondary progressive MS?
Where there is relapsing-remitting disease but now there is a progressive worsening of Sx and incomplete remission. Sx become increasingly permanent
What is Primary progressive MS?
Involves worsening disease and neuro Sx from the point of diagnosis without relapses or remission
Investigations to support the diagnosis of MS
MRI shows lesions and LP can detect oligoclonal bands in the CSFe
Tx for MS
MDT led. Disease modifying therapies aim to induce long term remission. Relapses treated with steroids (500mg oral for 5 days or 1g IV daily for 3-5 days)
Symptomatic Tx for MS
Exercise, Treat fatigue with amantidine/modafinil/SSRI, Neuropathic pain management, Depression treat with SSRI, Urge incontinence with antimuscs (solifenacin), Spasticity with baclofen or gabapentin, Oscillopsia with gabapentin or memantine
What is MND
Encompasses a variety of specific disease that affect the motor nerves. It is progressive and eventually fatal
Name the types of MND
Amyotrophic Lateral Sclerosis, Progressive Bulbar Palsy, Progressive Muscular dystrophy and primary lateral sclerosis
What muscles are affected in progressive bulbar palsy
Muscles of talking and swallowing (bulbar muscles)
Causes of MND
FHx, smoking, heavy metal exposure, Pesticide
Typical MND pt
late middle-aged (60 yo) man possibly with an affected relative
Typical onset of Sx in MND
Insidious, progressive weakness of the muscles throughout the body affecting the limbs, trunk, face and speech. Typical is limb first. Clumsiness, dropping things and tripping, slurred speech
Signs of LMN disease
Muscle wasting, reduced tone, fasciculations, reduced reflexes
Signs of UMN disease
Increased tone and spasticity, Brisk reflexes, Upgoing plantar reflexes
Diagnosis of MND
Clinical, made by a specialist when there is certainty
Management of MND
Riluzole can slow the progression of the disease and extend survival by several months in ALS. NIV to support breathing
Holistic management of MND
Breaking bad news, MDT input, Symptom control (baclofen for muscle spas, Antimusc for excessive saliva), Benzos for breathlessness from anxiety, Advanced directives, EOL care
What is Parkinsons
Disease of progressive reduction in dopamine in the basal ganglia leading to a disorder in movement
Symptom symmetry in Parkinsons
Asymmetrical
Typical Parkinsons Pt
Older man, around 70 with gradual onset of Sx
Classic triad in Parkinsons
Resting tremor, Rigidity, Bradykinesia
Hertz of Parkinsons tremor
4-6 hertz frequency
Describe the tremor in parkinsons
Worse on one side, pill rolling, worse when resting and improves with voluntary movement, worse when distracted
Describe the rigidity seen in Parkinsons
Resistance to passive movement of the joint, Tension gives way in small increments, this jerking resistance is termed ‘cogwheel rigidity’
Effects of bradykinesia
Handwriting gets smaller and smaller (micrographia), Small steps when walking (shuffling gait), Rapid frequency of steps to compensate (festinating gait), Hard to initiate movement, Difficulty turning when standing, reduced facial movements and expressions (hypomimia)
Other features of Parkinsons
Depression, Sleep disturbance and insomnia, Loss of sense of smell, Postural instability, Cognitive/memory impairment
What is multi system atrophy
A Parkinsons plus syndrome where the neurones in various systems degenerate. can lead to autonomic (postural Hypo, constipation, sweating, sexual dysfunction) and cerebellar dysfunction
What is Dementia with Lewy Bodies
Parkinsons plus syndrome. Progressive cognitive decline, associated Sx of visual hallucinations, delusions, REM sleep disorder, fluctuating consciousness
Name the two other Parkinsons Plus syndromes
Progressive supranuclear palsy, Corticobasal degenerative
Diagnosis of Parkinsons
Clinical
What are the four treatment options for Parkinsons
Levodopa, COMT inhibitors, Dopamine agonists, Monamine oxidase-B inhibitors
Explain Levodopa therapy
It is a synthetic form of dopamine taken orally. It is usually combined with a peripheral decarboxylase inhibitor (e.g. carbidopa or benserazide) which stops it being metabolised in the body before it reaches the brain. It become less effective over time and is often reserved for when other tx arent working
Common combination drugs of levadopa
Co-beneldopa (levadopa + benserazide) and Co-careldopa (Levodopa + carbidopa)
SE of Levodopa
Dyskinesia (abnormal movements associated with excessive motor activity) e.g. dystonia, chorea and athetosis
Tx for dyskinesia associated with Levodopa
Amantadine (glutamate antagonist)
What are COMT inhibitors
E.g. entacapone. Inhibit catechol-o-methyltransferase. The COMT enzyme metabolises levodopa so a COMT inhibitor slows the breakdown of levodopa
Explain dopamine agonists
Mimic the action of dopamine. Less effective than Levodopa so are used to delay the use of Levodopa and then used in combo
Examples of dopamine agonists
Bromocriptine, Pergolide, Cabergoline
SE of Dopamine agonists
Pulmonary fibrosis
Explain the use of Monamine oxidase-B inhibitors
Blocks the action of MOA-B enzyme (breaks down dopamine, serotonin and adrenaline). They are more specific to dopamine. Used to delay the use of Levodopa and then in combo
Examples of MOA-B inhibitors
Selegiline and Rasagiline
Summarise benign essential tremor
Affects voluntary muscles commonly in hands, head, jaw and voice. Symmetrical, 6-12 hertz, improved by alcohol, absent in sleep
DDx for benign essential tremor
Parkinsons, MS, Huntingtons, Hyperthyroid, Fever, Dopamine antagonist (antipsychotics)
Tx for benign essential tremor
Propranolol
Primidone (a barbituate antiepileptic)
What is Epilepsy
Characterised by seizures (transient episodes of abnormal electrical activity)
Types of seizures
Generalise tonic-clonic, Partial, Myoclonic, Tonic, Atonic, Absent, Febrile, Infantile spasm
Explain tonic-clonic seizures
muscle tensing and jerking associated with loss of consciousness, aka grand mal, before the patient may experience an aura, may be tongue biting, incontinence, groaning and irregular breathing, after the seizure there is a prolonged post-ictal period
What are partial seizures
Occur in an isolated area of the brain often in the temporal lobes, affect hearing, speech, memory and emotions. Patient remains awake. They are aware in simple partial and not in complex
Symptoms associated with partial seizures
Deja vu, Strange smells/taste/sight or sound, unusual emotions, abnormal behaviour
What are myoclonic seizures
Sudden, brief muscle contraction like an abrupt jolt or jump. can occur as part of juvenile myoclonic epilepsy in children
What are tonic seizures
Sudden onset of increased muscle tone, where the body stiffens. Results in a fall if standing
What are atonic seizures
Drop attacks, sudden loss of muscle tone, may be indicative of Lennox-Gastuat syndrome
What are absence seizures
Seen in children, pt becomes blank and stares into space, they are unaware of surroundings and dont respond
What are infantile spasms
AKA west syndrome. Rare disorder starting at 6mo. presents with clusters of full body seizures. Hypsarrhythmia is a characteristic EEG finding, poor prognosis and developmental delay
Tx for Infantile spasms
ACTH and Vigabatrin
DDx for epilepsy
Vasovagal syncope, Pseudosizures, Cardiac syncope, Hypoglycaemia, Hemiplegic migraine, TIA
IX for Epilepsy
EEG, MRI brain, ECG, Serum electrolytes, Blood glucose, Cultures
Tx for tonic clonic for men and women who cant have children and women who are able to have children
Sodium valproate for men and women who cant have children
Lamotrigine or Levetiracetam for women who can have children
Tx for partial seizures for men and women who cant have children and women who are able to have children
Lamotrigine or Levetiracetam for both groups
Tx for Myoclonic seizures for men and women who cant have children and women who are able to have children
Sodium valproate for men and women who cant have children
Levitiracetam for women who can have children
Tx for tonic and atonic seizures for men and women who cant have children and women who are able to have children
Sodium valproate for men and women who cant have seizures
Lamotrigine for women who can have children
Tx for Absence seizures
Ehtosuximide
Other less commonly used anti-epileptics
Carbamazepine, Phenytoin, Topiramate
Summarise Sodium valproate
Works by increasing the activity of GABA
SE: Teratogenic, Liver damage, hair loss, Tremor, reduced fertility
What is status epilepticus
A seizure lasting more than five minutes or multiple seizures without regaining consciousness between them
Management of status epilepticus
ABCDE (secure airway, give O2, Check blood glucose, Gain IV acces)
Medical Tx: Benzodiazapine, after 2 doses of benzo give IV Levetiracetam, phenyotin or sodium valproate, third line is phenobarbital or anaethesia
What is Allodynia
When pain is experienced with sensory inputs that dont usually cause pain e.g. light touch
Which two groups of pain fibres transmit pain, explain
C fibres - transmit signals slowly and produce dull and diffuse pain sensations
A-delta fibres - Transmit signals fast and produce sharp and localised pain sensations
Explain the analgesic ladder
Step 1: non-opioid such as NSAID and Paracetamol
Step 2: weak opiate e.g. codeine and tramadol
Step 3: Strong opiate e.g. morphine, oxycodone, fentanyl and buprenorphine
SE of NSAIDS
Gastritis, Ulcers, exacerbate asthma, HTN, renal impairment, Coronary artery disease
SE of Opioids
Constipation, Skin itching, Nausea, Altered mental state, resp depression
Typical features of neuropathic pain
numbness, tingling, burning and pins and needles
Common cause of neuropathic pain
Post-herpetic neuralgia, nerve damage, MS, Diabetic neuralgia, Trigeminal neuralgia, Complex regional pain syndrome
Questionnaire for neuropathic pain
DN4
First line Tx for Neuropathic pain
Amitriptyline - a TCA
Duloxetine - SNRI
Gabapentin - anticonvulsant
Pregabalin - anticonvulsant
First line for trigeminal neuralgia
Carbamazepine
What is facial nerve palsy
isolated dysfunction of the facial nerve and presents with unilateral facial weakness
What are the five branches of the facial nerve
Temporal, Zygomatic, Buccal, Marginal mandibular and Cervical
Facial nerve motor function
Facial expression, Stapedius, Posterior digastric, Stylohyoid, platysma
Facial nerve sensory function
Taste for anterior 2/3 of tongue
Facial nerve parasympathetic function
Submandibular and sublingual salivary glands, lacrimal glands
UMN vs LMN facial nerve palsy urgency
UMN could be a stroke so its urgent and LMN can be managed less urgently
Forehead sparing in facial nerve palsy
Forehead is spared in an UMN lesion so patient can move forehead on the affected side. Not spared in LMN
Where do unilateral UMN lesions occur
Stroke and tumours
Where do bilateral UMN lesions occur
Pseudobulbar palsies
MND
Summarise Bells palsy
Common
Idiopathic
Unilateral LMN facial palsy
Use prednisolone 50mg for 10 days
Lubricating eye drops to prevent eye drying out
Summarise Ramsay-Hunt syndrome
Caused by VZV
Unilateral LMN facial nerve palsy
Painful tender vesicular rash in the ear canal, pinna and around ear
Tx with aciclovir and prednisolone and eye drops
Infectious causes of LMN facial nerve palsy
Otitis media, Otitis externa, HIV, Lyme
Systemic causes of LMN facial nerve palsy
Diabetes, Sarcoidosis, Leukaemia, MS, Guillain-Barré
Tumour causes of LMN facial palsy
Acoustic neuroma, Parotid tumour, Cholesteatoma
Trauma causes of LMN facial nerve palsy
Direct nerve trauma, Surgery, Base of skull fracture
How do brain tumours often first present
Sx of raised ICP
Causes of Intracranial HTN
Brain tumour, Intracranial haemorrhage, Idiopathic intracranial HTN, Abscesses or infection
In patients with headache what are the concerning features that may suggest raised intracranial HTN
Constant headache, Nocturnal, Worse on waking, worse on coughing or straining, Vomiting, Papilloedema
Summarise Papilloedema
Swelling of the optic disc secondary to raised ICP
Raised CSF pressure flows into the optic nerve sheath and causing optic disc to bulge forwards
Seen on fundoscopy as: Blurring of the optic disc margin, Elevated optic disc, Loss of venous palpation, Engorged retinal veins, Patons lines
Name the three glial cells
Astrocytes, Oligodendrocytes and ependymal cells
What are the three main types of glioma
Atrocytoma (glioblastoma is the most common and aggressive)
Oligodendroglioma
Ependymoma
Summarise meningioma
Tumours growing from the cells of the meninges. Usually benign however they take up space which can lead to raised ICP
What cancers most often spread to the brain
Lung, Breast, RCC, Melanoma
What hormone deficiencies or excesses are caused by pituitary tumours
Acromegaly, Hyperprolactinaemia, Cushings and Thyrotoxicosis
Tx of Pituitary tumours
Trans-sphenoidal surgery, Radiotherapy, Bromocriptine to block excess prolactin, Somatostatin analogues
What cells are acoustic neuromas associated with
Schwann cells
What are bilateral acoustic neuromas associated with
Neurofibromatosis type 2
Typical clinical picture in acoustic neuroma
Patient is a 40-60 year old with gradual onset of unilateral sensorineural hearing loss, unilateral tinntius, dizziness and imbalance, sensation of fullness in the ear and facial nerve palsy
Management options for acoustic neuroma
Conservative, surgery to remove the tumour and radiotherapy to reduce the growth
General management for brain tumour
Surgery, chemo, radio, palliative
Huntingtons inheritance and mutations
Autosomal dominant. It is a trinucleotide repeat disorder involving mutations on the HTT gene on chromosome 4 which codes for huntingtin (HTT) protein
When do symptoms begin in Huntingtons
30-50 yo
What is anticipation
A feature of trinucleotide repeat disorders where successive generations have more repeats in the gene resulting in earlier age of onset and increased severity of the disease
Sx in Hungtingtons
Insidious progressive worsening of Sx. Begins with cognitive, psychiatric and mood problems followed by the development of movement disorders. Chorea, dystonia, rigidity, eye movement disorders, dysarthria, dysphagia
Diagnosis of Huntingtons
Genetic testing
Tx for Huntingtons
Breaking bad news, Genetic counselling, MDT, Physio, SALT, Tetrabenazine for chorea, Antidepressants, Advanced directives, EOLC
Prognosis for Huntingtons
Life expectancy is 10-20 years after onset of Sx. as the disease progresses the pt becomes more frail and susceptible to illness (e.g. infections, weight loss, falls and pressure ulcers), Death is often due to aspiration pneumonia or suicide
What is Myasthenia Gravis
An autoimmune condition affecting the neuromuscular junction
General Sx of MG
Muscle weakness that progressively worsens with activity and improves with rest
Typical MG pt
Affects women under 40 and men over 60
What tumour is strongly associated with MG
Thymoma - 10-20% of pt with MG have a thymoma
What antibodies are involved in MG
Acetylcholine receptor (AChR) antibodies, Muscle-specific kinase (MuSK), Low-density lipoprotein receptor-related protein 4 (LRP4)
What muscles are mainly affected in MG
Proximal muscles of the limbs and small muscles of the head
Sx and difficulties has by pt with MG
Difficulty climbing stairs, standing from a seat, raising hands above head
Diplopia
Ptosis
Facial movement weakness
Difficulty swallowing
Fatigue in jaw
Slurred speech
Ways to elicit muscle weakness in MG
Repeated blinking makes ptosis worse, Prolonged upward gaze worsens diplopia, repeated abduction of arm causes weakness
Ix for MG
Antibody tests looking for AchR, MuSK, LRP4
CT or MRI of the thymus
Edrophonium test
What is an edrophonium test
Pt given Iv edrophonium chloride. Normally, cholinesterase enzymes in the NMJ break down acetylcholine, edrophonium blocks these enzymes reducing the breakdown of acetylcholine. as a result the levels of Ach in the NMJ rise which relieves muscle weakness which is suggestive of MG
Tx for MG
Pyridostigmine - cholinesterase inhibitor that prolongs action of Ach and improves Sx
Immunosuppression (pred or azathioprine) suppresses prod of Ab
Thymectomy
Rituximab
Explain myasthenic crisis
Causes acute worsening of Sx often triggered by another illness, resp muscles weaken and lead to resp failure. Patients may require NIV or mechanical vent
Tx with IV Ig and plasmapheresis
What is Lambert-Eaton Myasthenic Syndrome
Similar to MG except the symptoms are more insidious and less pronounced. in most cases it is paraneoplastic occurring alongside small-cell lung cancer. Can occur as a primary condition
Sx of Lambert Eaton and how they differ from MG
Proximal muscle weakness, Autonomic dysfunction, Reduced or absent tendon reflexes. Sx improve after periods of muscle contraction.
Management of Lambert Eaton
Exclude underlying malignancy
Amifampridine works by blocking voltage-gated potassium chanells in the presynaptic membrane, which prolongs the depolarisation of the cell membrane and assists calcium channels in carrying out their action
Other: Pyridostigmine, Immunosuppress, IV Ig, Plasmapharesis
What is Charcot-Marie-Tooth Disease
Inherited disease that affects the peripheral motor and sensory neurones. Causes myelin or axon dysfunction. Majority of mutations are autosomal dominant
Symptom onset of CMT
Usually start to appear before aged 10 but can be delayed until 40 or later
Classical features of CMT
High foot arches (pes cavus)
Distal muscle wasting causing “inverted champagne bottle legs”
Lower leg weakness, particularly loss of ankle dorsiflexion (with high stepping gait due to foot drop)
Weakness in the hands
Reduced tendon reflexes
Reduced muscle tone
Peripheral sensory loss
Other causes of Peripheral neuropathy
ABCDE
A - Alcohol
B - B12 def
C - Cancer (e.g. myeloma) and CKD
D - Diabetes and drugs
E - Every vasculitis
What drugs cause peripheral neuropathy
Isoniazid, Amiodarone, Leflunomide, Cisplatin
Management of CMT
There is no cure or treatment to prevent progression. Neuro and genetics made a Dx, Physio, OT, Podiatrists, Analgesia, Ortho surg
What is Guillain-Barré syndrome
An acute paralytic polyneuropathy that affects the PNS
Patten of illness in GBS
Acute, symmetrical, ascending weakness and can also cause sensory Sx
GBS causative organisms
Campylobacter jejuni, CMV and EBV
GBS pathophysiology
molecular mimicry. B cells of the immune system create Ab against the antigens on the triggering pathogen and these Ab match proteins on the peri neurones causing damage to nerve cells, myelin sheath and nerve axon
Presentation of Sx in GBS
Usually start within four weeks of the triggering infection. Begin in the feet and progress upwards, peak at 2-4 weeks then recovery. Reduced reflexes. Neuropathic pain. May spread to CN and cause facial weakness. Autonomic dysfunction may lead to urinary retention , ileus and heart arrhythmias
What criteria tool is used to diagnose GBS
Brighton criteria
What Ix can support a Dx of GBS
Nerve conduction studies (show reduced signal through the nerves) and LP (raised protein)
Management of GBS
Supportive, VTE prophylaxis, IV Ig, Plasmapheresis
Resp failure: intubate, ventilate, admit to ICU
Prognosis for GBS
Recovery can take months to years, most eventually fully recover or are left with minor Sx. Mortality is 5%
What is neurofibromatosis
A genetic condition that causes nerve tumours (neuromas) to develop throughout the nervous system. They are benign but can cause neurological and structural problems. Type 1 is more common than type 2
Neurofibromatosis type 1 genetics
Gene found on chromosome 17. Codes for a protein called neurofibramin which is a tumour suppressor protein. Autosomal dominant inheritance
Features of Neurofibromatosis Type 1
CRABBING:
C - Cafe-au-lait spots
R - Relative with NF1
A - Axillary or inguinal freckling
BB - Bony dysplasia such as Bowing of the long vone or sphenoid wing dysplasia
I - Iris hamartomas
N - Neurofibromas
G - Glioma of the optic pathway
What are neurofibromas
Skin-coloured, raised nodules or papules with a smooth, regular surface, two or more is signficicant
Management of NF1
No treatment for the underlying disease, genetic tests are useful, monitor and manage Sx and complications
Complications of NF1
Migraines, Epilepsy, Renal artery stenosis, Learning disability, Behavioural problems, Scoliosis, vision loss, Malignant peripheral nerve sheath tumours, GI stromal tumours, Brain tumours, Spinal cord tumours, Increased cancer risk
Summarise NF2
On chromosome 22. Codes for merlin. Schwannomas are associated, autosomal dominant, NF2 is associated with acoustic neuromas
What is tuberous sclerosis
autosomal dominant genetic condition that affects multiple systems
Characteristic feature of tuberous sclerosis
Hamartomas which are benign growths. Commonly affect the skin, brain, lungs, heart, kidneys and eyes
Tuberous sclerosis mutations
TSC1 gene on chromosome 9 which codes for hamartin
TSC2 gene on chromosome 16 that codes for tuberin
Features of tuberous sclerosis
Ash leaf spots (depigmented areas of skin shaped like ash leaf), Shagreen patches (thickened, dimpled, pigmented patches), Angiofibromas (nose and cheek papules), Ungual fibromas (lumps in nail bed), Cafe-au-lait spots, Poliosis (patch of white hair on head, eyebrows
Neurological features of Tuberous Sclerosis
Epilepsy, Learning disability, Brain tumours
Other features of Tuberous Sclerosis
Rhabdomyomas, Angiomyolipoma, Lymphangioleiomyomatosis, Subependymal giant cell astrocytoma, Retinal hamartoma
Management of tuberous sclerosis
No treatment for gene defect, management is supportive and tx complications. In some circumstances mTOR inhibitors (e.g. everolimus or sirolimus) may be used to suppress the growth of brain, lung or kidney tumours
Red flags for headaches
Fever, photophobia or neck stiffness (Meningitis, enceph)
New neuro Sx (haemorrhage or tumour)
Visual disturbance (GCA, Glaucoma, tumour)
Sudden onset occipital headache (SAH)
Worse on coughing or straining (Raised ICP)
Postural, worse on standing, lying or bent over (raised ICP)
Vomiting (Raised ICP or CO poisoning)
Hx of trauma (Haemorrhage)
Hx of cancer (met)
Pregnancy (pre-eclampsia)
Tx for chronic or frequent tension headaches
Amitriptyline
Tx for prolonged case of sinusitis
steroid nasal spray or antibiotics (phenoxymethylpenicillin)
When do hormonal headaches occur
Two days before and the first three days of the menstrual period. In the perimenopausal period and in early pregnancy
Tx for hormonal headaches
Triptans and NSAID’s
What is cervical spondylosis
Caused by degenerative changes in the cervical spine. Causes neck pain, made worse by movement and presents with headaches
What is Trigeminal Neuralgia
Causes intense facial pain and 90% is unilateral pain. Described as electric shock like, shooting, stabbing, burning, can be triggered by touch, talking, eating, shaving and cold
Tx for Trigeminal neuralgia
Carbamazepine
What condition is trigeminal neuralgia more common in
MS
Four main types of migraines
Migraine wiith aura, without aura, silent migraine (aura but no headache), Hemiplegic migraine
Five stages of migraine
Permonitory/Prodromal stage, Aura, Headache, Resolution and Postdromal/Recovery
Typical features of migraine
Unilateral, Moderate-Severe intensity, Pounding or throbbing, Photophobia, Phonophobia, Osmophobia, Aura, N/V
What is an aura
Visual Sx most common, sparks in vision, blurred vision, lines across vision, loss of visual fields, tingling or numbness, dysphagia
What is a hemiplegic migraine
Unilateral limb weakness, ataxia and impaired consciousness. Familial hemiplegic migraine is an autosomal dominant genetic condition. Can mimic a stroke or TIA
Triggers of migraine
Stress, bright lights, Strong smells, Certain foods, Dehydration, Menstruation, Disrupted sleep, Trauma
Acute management of migraine
NSAID’s. Paracetamol, Triptans, Antiemetics
Explain Triptans
Serotonin receptor agonists and cause cranial vasoconstriction, Inhibit pain signals, Inhibit release of inflammatory neuropeptides
Contraindications of triptans
HTN, Coronary artery disease, previous stroke
Prophylactic medications for migraines
Propanolol, Amitriptyline, Topiramate
Other options for migraine management
CBT, Meditation, Acupuncture, Vitamin B2
Prophylactic triptans for menstrual migraines
Frovatriptan or zolmitriptan
What is a cluster headache
Unbearable unilateral headache usually centered around the eye. Occur in clusters of attacks and then disappear
Typical cluster headache pt
30-50 year old male smoker
Sx of Cluster headaches
Red, swollen watering eye
Pupil constriction
Eyelid drooping
Nasal discharge
Facial sweating
Management for cluster headaches
Triptans
high flow 100% O2
Prophylaxis options for cluster headaches
Verapamil, Occipital nerve block, Prednisolone, lithium
