Module 3C Neurology - Conditions Flashcards

Question

Encephalitis is usually caused by a virus, what is the most common viral cause of encephalitis? - Children - Neonates

Answer 1

Herpes simplex virus (HSV) - Children - HSV-1 from cold sores - Neonates - HSV-2 from genital herpes, contracted during birth

Answer 2

Rapid onset of symptoms: - fever - headache - altered consciousness - +/- neurological deficits

Answer 3

1. Lumbar puncture - *send CSF for viral PCR testing* *(CT scan if LP contraindicated - eg. GCS ≤ 9, hemodynamically unstable, active seizures or post-ictal)* 2. MRI brain (3. HIV testing is recommended)

Answer 4

1. IV antiviral - Aciclovir for HSV and VZV - Ganciclovir for CMV 2. Supportive care - fluids, monitor ICP, +/- manage seizures 3. Repeat lumbar puncture - to ensure successful treatment prior to stopping antivirals (4. Follow-up and rehab - manage any complications)

Answer 5

Usually bacterial or viral: 1. Bacterial - Neisseria meningitidis (meningococcal meningitis) - Strep. pneumoniae - Haemophilus influenzae - Neonates --> E. coli, and group B Strep, Listeria monocytogenes 2. Viral - Enteroviruses (eg. coxsackievirus) - most common - Herpes simplex virus (HSV)

Answer 6

Neisseria meningitidis (meningococcus) - *gram -ve diplococcus* .

Answer 7

1. Invasion - Pathogen colonises nasopharynx - pathogen then invades bloodstream - bacteria then cross the blood-brain barrier (BBB) 2. Survival - bacteria evades immune responses to survive and proliferate - various mechanisms - antigenic variation, inhibition of complement activation, intracellular survival inside phagocytes, production of immunomodulatory molecules, and formation of biofilms 3. Replication and Tissue damage - bacteria multiply in the subarachnoid space - leading to increased ICP - Inflammatory response leads to damage of neuronal tissue and the BBB - results in symptoms

Answer 8

- Prodromal phase (non-specific) often precedes the classic symptoms - *malaise, headache, myalgia, and low-grade fever* . Classic triad: - Fever - moderate to high grade - Neck stiffness - worse with passive flexion of neck - Altered mental state

Answer 9

- When the meningococcus bacterial infection is in the bloodstream - non-blanching rash

Answer 10

- **Kernig's sign** - pt in supine position with hips and knees flexed at 90 degrees, pain on straightening the knee suggests meningeal irritation (causes a stretch in the meninges) - **Brudzinski's sign** - pt supine, use your hands to lift their head and neck off the bed and flexing their chin to their chest --> +ve sign is when this causes the pt to flex their hips and knees involuntarily

Answer 11

- Blood cultures - to help identify causative organism - FBC - elevated WCC - CRP and ESR - often raised in bacterial infections - Blood glucose - important for comparison with CSF glucose lvls - Lumbar puncture - essential for confirming a diagnosis (culture, viral PCR, CSF glucose and protein)

Answer 12

Think about what is going on: - bacteria swimming in the CSF will release proteins and use up glucose - Viruses may release a small amount of protein and do not use up glucose - The immune system releases more neutrophils with bacteria and lymphocytes with viruses

Answer 13

Ideally blood cultures and a LP should be performed before starting antibx, however don't delay antibx if pt is acutely unwell (once causative organism identified - start specific antibx) 1. Ceftriaxone + amoxicillin (to cover Listeria) (cefotaxime - if under 3 months) 2. +/- Aciclovir (only if HSV encephalitis is suspected) 3. +/- Vancomycin (if there is a risk of penicillin-resistant pneumococcal infection - eg. recent foreign travel or prolonged antibx exposure) 4. Steroids (eg. dexamethasone) - to reduce hearing loss complications 5. Supportive care - analgesics/antipyretics/antiemetics +/- fluids +/- oxygen (6. Close monitoring for complications - raised ICP, seizures, neuro deficits)

Answer 14

YES - notify the UK Health Security Agency

Answer 15

Hearing loss - Sensorineural hearing loss can occur due to cochlear damage

Answer 16

If close contact - give a single dose of ciprofloxacin as prophylaxis

Answer 17

May be asymptomatic (particularly when small in size) - Headaches / raised ICP signs - persistent, morning, worse on lying down, +/- nausea and vomiting - Seizures - focal or generalised - Progressive focal neuro symptoms (depending on location) - *cognitive, motor, sensory, vision, speech, personality changes*

Answer 18

- constant headache - nocturnal + worse on waking - worse on coughing, straining, bending forward, or lying down (positional) - nausea and vomiting - *papilloedema on fundoscopy* . more signs: - altered mental state - visual field defects - seizures - unilateral ptosis - 3rd and 6th nerve palsies

Answer 19

- sheath around optic nerve is connected with the subarachnoid space - therefore, raised CSF pressure flows into the optic nerve sheath --> increasing the pressure around the optic nerve behind the optic disc causing the optic disc to bulge forward

Answer 20

1. Gliomas (can be benign or malignant) - tumours of the glial cells in brain or spinal cord - Glioblastoma - most common primary brain tumour in adults - Pilocystic astrocytoma - most common primary brain tumour in children 2. Meningiomas (typically benign) - tumours growing from the cells of the meninges, cause symptoms by compression not invasion 3. Secondary metastases (bad) - most common form of brain tumours, often multiple lesions 4. Pituitary adenoma (benign tumours) - can be hormone secreting or non-secreting 5. Vestibular schwannoma (or acoustic neuroma) - benign tumour of the Schwann cells that surround the 8th cranial nerve (vestibulocochlear)

Answer 21

- Lung (most common) - Breast - Bowel - Skin (melanoma) - Kidney (renal cell carcinoma)

Answer 22

Glioblastoma multiforme

Answer 23

Bitemporal hemianopia - pituitary sits close to the optic chiasm

Answer 24

They can cause hromone deficiencies (hypopituitarism) or excessive release of hormones, leading to: - Acromegaly (excessive GH) - Hyperprolactinaemia (excessive prolactin) - Cushing's disease (excessive ACTH and cortisol) - Thyrotoxicosis (excessive TSH and thyroid hormones)

Answer 25

1. Trans-sphenoidal surgery (through the nose and sphenoid bone) 2. +/- radiotherapy 3. Bromocriptine --> blocks excess prolactin 4. Somatostatin analogues (eg. octreotide) --> blocks excess GH

Answer 26

provide the myelin sheath around neurones of the peripheral NS

Answer 27

the cerebellopontine angle (arises from the 8th cranial nerve - vestibulocochlear)

Answer 28

- Unilateral sensorineural hearing loss (often first symptom) - unilateral tinnitus - dizziness or imbalance - sensation of fullness in the ear - facial nerve palsy (if tumour grows large enough to compress the facial nerve)

Answer 29

facial nerve palsy (if tumour grows large enough to compress the facial nerve)

Answer 30

- MRI brain - Biopsy - gives defintive histological daignosis . Management depends on type and, grade - guided by MDT: 1. Surgery 2. Radiotherapy +/- Chemotherapy 3. Palliative care

Answer 31

Grades 1 to 4 - where 1 is least aggressive and 4 is most aggressive, based off: - cellular appearance - mitotic activity (how quickly cells are dividing) - necrosis (dead tissue within the tumour) - vascular proliferation

Answer 32

Frontal lobe - the frontal lobe is responsible for personality and higher-level decision-making

Answer 33

- Contiguous spread of infection - sinusitis, otitis media, or dental infections - Haematogenous spread from distant sources - eg, endocarditis, pulmonary infections - Direct inoculation - trauma or neurosurgical procedures (risk factors - immunocompromised, IV drug use)

Answer 34

- Neuroimaging - *MRI (with gadolinium) and CT both have roles* - Stereotactic needle aspiration - *can aid diagnosis and serve as treatment* (note: lumbar puncture is contraindicated due to risk of brain herniation)

Answer 35

1. Surgery - craniotomy --> abscess cavity debrided 2. IV antibiotics 3. Intracranial pressure management (eg. dexamethasone)

Answer 36

- Thrombotic - eg. atherosclerosis (ruptured plaque) - Embolic - eg. AF

Answer 37

- Main --> smoking, AF, hx of previous stroke or TIA - Other --> hypertension, hypercholesterolemia, obesity, family hx, vasculitis, combined oral-contraceptive pill (stroke is associated with co-morbidities such as cardiovascular disease and vascular disease --> share the same risk factors)

Answer 38

- Stroke = a clinical syndrome characterised by rapidly developing clinical symptoms and/or signs of focal neurological deficit lasting more than 24hrs and thought to be of vascular origin - TIA = neurological signs/symptoms that are consistent with a stroke that resolve within 24hrs - Crescendo TIAs = two or more TIAs within a week and indicate a high risk of stroke

Answer 39

- One-sided muscle weakness (hemiparesis) - Dysphasia (speech disturbance) - Aphasia (expressive/receptive/global) - One-half visual field defects (hemianopia) - often lose one-half of visual field in each eye (homonymous hemianopia) which results in neglect on one side of the body - Sensory loss - Ataxia and vertigo

Answer 40

Not always --> if cerebellum affected then ipsilateral presentation .

Answer 41

- Blood is delivered to brain through 4 main arteries, two internal carotid arteries (anterior supply), and two vertebral arteries (posterior supply to the brain) - Anterior supplied by internal carotid arteries which form the ACA and MCA - Anterior connects with Posterior via posterior communicating artery - Posterior supplied by vertebral arteries which combine to form the Basilar artery (The brain also has a venous drainage system which drain into the venous sinuses)

Answer 42

- Formed by basilar artery, internal carotid artery, and middle cerebral artery - Safeguards the oxygen supply from interruption by arterial blockage - For example, if there is stenosis in one artery then other source arteries to the Circle of Willis can provide an alternative blood flow (collateral circulation)

Answer 43

Limbic system = a set of brain structures that controls emotions, memory, and behaviour . Hippocampus: - memory centre (forms and stores long term memories) - spatial awareness/orientation - neurogenesis occurs here (key brain structure for learning new things) . Amygdala: - plays a role in how we experience emotions (like fear, anger, anxiety, pleasure) - attaches emotional content to memories - fight or flight response occurs here

Answer 44

Hippocampus

Answer 45

FRONTAL LOBE - controls thinking and personality - voluntary movement (primary motor cortex) - short-term memory - planning and problem solving (higher executive function) . PARIETAL LOBE - sensory info (touch, pain, temperature, pressure) - spatial relationships - reading/writing . OCCIPITAL LOBE - Primary visual cortex (visual processing centre) - connects images to memories . TEMPORAL LOBE - sensory info (hearing, smell, and taste) - primary auditory cortex (can understand what we hear) - recognising language and forming memories - making sense of complex visual info (faces and scenes) - (contains the hippocampus)

Answer 46

- FRONTAL - *tasks requiring executive function (planning, decision-making, problem-solving, and working memory) such as complex problem-solving scenarios* - PARIETAL - *two-point discrimination* - OCCIPITAL - *visual fields, colour recognition, identifying objects* - TEMPORAL - *ask pt to recall stories, identify sounds, or recognise familiar faces*

Answer 47

- Locations affected --> frontal, parietal, and temporal lobes Symptoms: - hemiparesis --> **arm worse than leg** - Sensory loss - Facial weakness --> facial droop/dysarthria - Dysphasia --> expressive, receptive, global - Hemianopia --> without macula sparing

Answer 48

- Broca's --> expressive dysphasia (pt can understand what is said but cannot express with words, difficult to speak) - Wernicke's --> receptive dysphasia (pt doesn't understand what is being said, but can still talk normally, but it doesn't make any sense)

Answer 49

- Left MCA - Broca's and Wernicke's area are found in the dominant cerebral hemisphere - left side for right-handed - right side for left-handed

Answer 50

- Locations affected --> frontal and parietal lobes Symptoms: - hemiparesis --> **leg worse than arm** - Apathy --> lack of interest, enthusiasm, or concern - incontinence - Disinhibition --> lack of restraint in social scenarios (affects motor, emotional, cognitive, instinctual, and perceptual behaviours) - Mutism

Answer 51

Locations affected --> Lenticulostriate arteries (small penetrating arteries that supply deep structures (susceptible to injury secondary to uncontrolled hypertension) Symptoms: - Pure motor --> hemiparesis or hemiplegia, dysrthria, dysphagia - Pure sensory --> numbness/tingling/pain on one side of body - Sensorimotor --> hemiparesis or hemiplegia with contralateral sensory impairment

Answer 52

Watershed zones are prone to infarction as they receive blood supply from two arteries

Answer 53

Locations affected --> mainly occipital, parts of temporal Symptoms: - Hemianopia --> with macular sparing - Amnesia - Sensory loss (thalamus) - Thalamic pain

Answer 54

- Supplies lower midbrain, pons, and medulla (and occipital lobe) - Infarction causes **locked-in syndrome** --> individual has full consciousness but is paralysed - due to damage to corticospinal tracts (quadriplegia) - Respiratory muscles also paralysed so individual has to be **ventilated** --> resp. failure and coma/death can be result

Answer 55

- Non-contrast CT is mainstay investigation - Thrombectomy --> Can be done together with IV thrombolysis if within 4.5hrs onset --> CT perfusion or CT angiography used to assess salvageable brain tissue

Answer 56

- pt on DOAC or Warfarin (check INR) - Hx of surgery, Hx of bleeding (external/internal) - Uncontrolled hypertension --> BP > 180/120mmHg

Answer 57

Repeat CT head to check for haemorrhagic transformation

Answer 58

- Aspirin 300mg daily --> for 2 weeks (start aspirin 24hrs after thrombolysis and once repeat CT confirms no haemorrhage) - After the 2 weeks --> Clopidogrel 75mg --> lifelong - Atorvastatin 20-80mg (after 48hrs) --> lifelong - Address modifiable risk factors --> smoking, diabetes control, AF control (if ECG showed AF to be the cause), exercise

Answer 59

- If carotid artery doppler ultrasound confirms > 50% carotid stenosis - (risk of clot embolising and causing stroke)

Answer 60

Exclude hypoglycaemia first then assess the following: - a stroke is likely if > 0

Answer 61

simple way to identify stroke in the community F – Face A – Arm S – Speech T – Time to call 999

Answer 62

NIH Stroke Scale (NIHSS)  used as an initial assessment of the patient for suspected stroke and gives a rough idea of how severe the stroke is (used in secondary care) - < 5 --> no stroke/minor - 5-15 --> moderate - 16-20 --> moderate-severe - 21-42 --> severe

Answer 63

Dense MCA sign --> visible immediately, shows the responsible arterial clot

Answer 64

Prothrombin complex concentrate (PCC) and Vitamin K

Answer 65

Protamine sulfate

Answer 66

Idarucizunab

Answer 67

Andexanet alfa

Answer 68

- 2.0-3.0 - > 4.9 is high risk of bleeding

Answer 69

- dysphagia/aspiration pneumonia --> most common cause of death pst-stroke in hospital setting --> SLT assessment + fluids - DVT/PE --> normal pt (antiplatelets), stroke pt (mechanical stockings --> we don't want to turn an ischaemic stroke into a haemorrhagic stroke) - UTI --> stroke can cause bowel/bladder issues - spasticity - shoulder subluxation - depression - nutrition - pressure sores --> look for bruising on pressure areas of body

Answer 70

Anticoagulants should not be started until brain imaging has excluded haemorrhage, and not until 14 days after the onset of an ischaemic stroke

Answer 71

- Problems with moving/walking --> *cerebellum is part of brain responsible for balance* - Vertigo --> 'room spinning' - muscle weakness or tremors - headache - nausea and vomiting - hearing and vision problems

Answer 72

Aspirin 300mg and review in TIA clinic within 24hrs

Answer 73

- Must stop driving immediately - Must stop for 1 month - Must inform DVLA if after 1 month you still have --> weakness in arms or legs, eyesight problems (visual filed loss or double vision), or problems with balance, memory, or understanding --> or if doctor says not safe to drive

Answer 74

- stop driving immediately - Must stop driving for at least one year, can only restart when doctor says it is safe

Answer 75

Long-standing hypertension

Answer 76

- PCA --> macular sparing due to occipital dual blood supply - MCA --> without macular sparing

Answer 77

- facial nerve exits brainstem at the cerebellopontine angle - on its journey to the face it passes through the temporal bone and parotid gland - it then branches off into its 5 divisions

Answer 78

- Motor - facial expression, stapedius (in inner ear), posterior digastric, stylohyoid, and platysma muscles - Sensory - taste from anterior 2/3 of tongue - Parasympathetic supply - submandibular and sublingual salivary glands + lacrimal gland

Answer 79

Unilateral facial paralysis - unable to wrinkle forehad and close eye fully - loss of nasolabial fold, drooping of mouth - +/- loss of taste in anterior 2/3 of tongue

Answer 80

It is a diagnosis of exclusion - however, symptoms can be similar to an UMN leison (stroke) so it is important that stroke is ruled out

Answer 81

Most pts recover over several weeks: 1. Prednisolone (if pt present within 72hrs of onset) +/- antivirals 2. Lubricating eye drops (to prevent eye from drying out) (if eye pain - refer to ophthalmology for potential exposure keratopathy)

Answer 82

Ramsay-Hunt Syndrome - *caused by varicella zoster virus (VZV)* - Treatment - aciclovir + prednisolone +/- lubricating eye drops

Answer 83

- Traumatic SAH - *head injury* - Spontaneous SAH - *intracranial aneurysm (saccular "berry" aneurysms)*

Answer 84

- Sudden-onset occipital headache ("thunderclap" or "hit with a baseball bat") - typically peaking in intensity within 1-5 mins - (may be a hx of a less severe 'sentinel' headache a few days before) . - Nausea and vomiting - Meningism - *photophobia +/- neck stiffness* - Neuro symptoms - *visual changes, dysphasia, focal weakness, seizures, reduced consciousness*

Answer 85

- Non-contrast CT head 1st-line - *ideally within 6hrs of onset* (Note: if CT head is done within 6hrs of onset and is normal, then don't do an LP and consider another diagnosis) - Lumbar puncture - *should be done at least 12hrs after onset (xanthochromia)* . - CT intracranial angiogram - *to identify a vascular lesion (eg. aneurysm)*

Answer 86

To allow for Xanthochromia to form - RBC breakdown (eg. bilirubin) - xanthochromia helps to distinguish true SAH from a "traumatic tap"

Answer 87

1. Refer to neurosurgery - endovascular coiling OR neurosurgical clipping to repair aneurysm 2. Supportive: analgesia +/- reversal of anticoagulation

Answer 88

1. Vasospasm - Nimodipine (Ca-channel blocker) 2. Hydrocephalus - LP, external ventricular drain, VP shunt 3. Seizures - anti-epileptic drugs

Answer 89

Sudden-onset headache - seizures - nausea and vomiting - reduced consciousness - focal neurological symptoms (eg. weakness)

Answer 90

GCS measures level of consciousness - GCS ≤ 8 --> intubation (needs airway support as risk of airway obstruction or aspiration, leading to hypoxia and brain injury)

Answer 91

- CT head - to establish diagnosis - Bloods - FBC (platelets) + coagulation screen 1. Refer to neurosurgery 2. Consider intubation, ventilation, and intensive care (if reduced GCS) 3. Correct any clotting abnormality (eg. platelet transfusion or reversal agents for blood thinners) 4. Correct severe hypertension, but avoid hypotension (5. Surgical options (for extradural OR subdural) - Craniotomy OR Burr holes)

Answer 92

- Brain tumours - Intracranial haemorrhage - Idiopathic intracranial hypertension - Abscesses or infection

Answer 93

As the name suggests, the cause is unknown, risk factors include: - Female (90%) - Obesity (often associated with recent weight gain) - Pregnancy

Answer 94

Symptoms (gradual and progressive) - Headache +/- nausea and vomiting - Transient visual obscurations - Pulsatile tinnitus - Photopsia (seeing flashes of light) - Back pain + Retrobulbar pain . Signs: - Papilloedema - typically bilateral and symmetrical - Visual field loss - typically peripheral - 6th nerve pasly - RAPD

Answer 95

To rule out a secondary cause of intracranial hypertension - MRI brain - LP (once intracranial mass lesions have been ruled out - due to risk of cranial herniation)

Answer 96

1. Conservative - weight loss 2. Acetazolamide (3. Topiramate may be used as an alternative + aids in weight loss) 4. Refractory cases: Loop diuretics + repeated LPs (as a holding measure) 5. Analgesia - paracetamol/NSAIDs (for head or back pain) 6. Surgery - optic nerve sheath fenestration or CSF shunting

Answer 97

- Enlarged and rapidly increasing head circumference (occipito-frontal circumference) - bulging anterior fontanelle - poor feeding and vomiting

Answer 98

Ventriculoperitoneal shunt (VP shunt) - drains CSF from ventricles into another body cavity (peritoneal cavity usually used)

Answer 99

acute thiamine (vitamin B1) deficiency - associated with chronic alcoholics, but can occur due to malnutrition

Answer 100

- Classic triad - confusion, ophthalmoplegia, and ataxia

Answer 101

1. Parenteral (not oral) thiamine - minimum of 5 days 2. Continue oral thiamine

Answer 102

Superior sagittal sinus thrombosis - thrombus/occlusion of cerebral vein or sinus leads to deoxygenated blood pooling within the brain parenchyma - causes an increase in cerebral venous pressure

Answer 103

1. acute antithrombotic therapy - LMWH 2. treat symptoms: - raised ICP - mannitol or hypertonic saline - seizures - anticonvulsants - infection/inflammation - antibx/glucocorticosteroids 3. long-term - anticoagulation (Warfarin)

Answer 104

- chronic and progressive autoimmune condition involving demyelination in the central nervous system (oligodendrocytes) - the immune system attacks the myelin sheath of the myelinated neurons

Answer 105

- CNS - Oligodendrocytes - PNS - Schwann cells

Answer 106

1. Relapsing-remitting MS (RRMS) - 85% of cases - relapses are followed by periods of neurological stability between episodes - RMMS often progresses to SPMS 2. Secondary progressive MS (SPMS) - A progressive neurological disability after an initial RRMS course 3. Primary progressive MS (PPMS) - Steady progressive worsening of neurological symptoms from onset

Answer 107

- CIS describes the dirst episode of demyelination and nuro signs/symptoms - Pts with CIS may never have another episode or may go on to develop MS

Answer 108

- Optic neuritis (most common initial presentation) - *unilateral reduced vision (central scotoma, pain with eye movement, impaired colour vision, RAPD)* - Focal weakness - incontinence, Horner's, facial nerve palsy, limb paralysis - Focal sensory symptoms - trigeminal neuralgia, numbness, paraesthesia, Lhermitte's sign - Ataxia - Sensory (due to loss of proprioception) OR Cerebellar (due to loss of coordination/balance) - Sexual dysfunction - most common complaint in men - Depression and anxiety

Answer 109

describes an electric shock sensation that travels down the spine and into the limbs when flexing the neck

Answer 110

Romberg's test - lose balance when standing with eyes closed

Answer 111

- MRI scans - demonstrate typical lesions - Lumbar puncture - oligoclonal bands in CSF

Answer 112

Specialist MDT manages MS: 1. Acute relapse - High-dose steroids IV or oral for 5 days (also improves optic neuritis) 2. Reducing long-term remission - DMARDS (eg. natalizumab, ocrelizumab) Specific problems: 3. Spasticity - baclofen or gabapentin 4. Fatigue - amantadine 5. Oscillopsia - gabapentin 6. Depression - antidepressants (eg. SSRIs)

Answer 113

Motor neurones (upper and lower) - the sensory neurones are spared

Answer 114

1. Amyotrophic lateral sclerosis (ALS) - Stephen Hawking had this type 2. Progressive bulbar palsy - primarily affects the muscles of talking and swallowing (the bulbar muscles)

Answer 115

- insidious, progressive weakness of the muscles throughout the body (limbs, trunk, face, and speech) - absence of sensory signs/symptoms - typically a 60-70yr old man . Can have UMN disease or LMN disease - *these have the corresponding UMN/LMN symptoms*

Answer 116

There are no effective treatment for halting or reversing the progression of the disease 1. Riluzole - can slow progression of the disease (used in ALS) 2. Respiratory care - NIV (BiPAP) used at night 3. Palliative care Symptom control: 4. Spasticity - baclofen 5. Excess saliva - antimuscarinic 6. Breathlessness (worsened by anxiety) - benzodiazepines

Answer 117

Respiratory failure (due to weakened resp. muscles) or Pneumonia

Answer 118

Cervical spondylosis is a degenerative condition affecting the cervical spine (ie. OA of the cervical vertebral bodies) - Motor weakness, sensory loss and bladder/bowel dysfunction

Answer 119

MRI cervical spine is gold-standard

Answer 120

1. Urgent referral to neurosurgery/orthopaedic spinal surgery 2. Decompressive surgery is only effective treatment

Answer 121

- most common early-onset hereditary ataxias - autosomal recessive

Answer 122

- typical age of onset is 10-15yrs old - Gait ataxia and kyphoscoliosis

Answer 123

- SCD = rare neuro condition that affects the dorsal columns, lateral corticospinal tracts, and spinocerebellar tracts of the spinal cord - caused by vitamin B12 deficiency

Answer 124

1. High-dose vitamin B12 supplementation

Answer 125

1. Raised ICP (risk of cranial herniation) 2. Recent seizures 3. Brain tumours 4. Coagulopathy or Anticoagulation (risk of spinal haematoma) 5. Local infection at puncture site

Answer 126

- involve tonic (muscle tensing) and clonic (muscle jerking) movements associated with a complete loss of consciousness - typically the tonic phase comes before the clonic phase - before the seizure, pts may experience aura - there may be tongue biting, incontinence, groaning, and irregular breathing - after the seizure, there is a prolonged post-ictal period, where the person is confused, tired, and irritable

Answer 127

- occur in an isolated brain area (often in the temporal lobes) - they affect hearing, speech, memory, and emotions . Pts remain awake during partial seizures: - Focal aware seizures (simple partial): pts remain aware - Focal impaired awareness seizures (complex partial): pts lose awareness . Symptoms associated: - Deja vu - strange smells/tastes/sight/sound sensations - unusual emotions - abnormal behaviours

Answer 128

- present with sudden, brief muscle contracts - like an abrupt jump or jolt - they remain awake - can occur as part of juvenile myoclonic epilepsy in children

Answer 129

- involve a sudden onset of increased muscle tone, where the body stiffens - this results in a fall if the pt is standing, usually backwards - only last a few seconds to a minute

Answer 130

- "drop attacks" - involve a sudden loss of muscle tone, often resulting in a fall - only last briefly and pts are usually aware during the episodes - often begin in childhood - may be indicative of Lennox-Gastaut syndrome

Answer 131

- usualyl seen in children - pt becomes blank, stares into space, and then abruptly returns to normal - during the episode, they are unaware of their surroundings and do not respond - typically last a few seconds - most pts stop having absence seizures as they get older

Answer 132

- very rare disorder, starting at around 6 months of age - presents with clusters of full-body spasms - Hypsarrhythmia is a characteristic EEG finding - associated with developmental regression and poor prognosis - treatment is with ACTH and vigabatrin

Answer 133

- tonic-clonic seizures that occur in children during a high fever - do not usually cause any lasting damage and are no serious, but can increase risk of developing epilepsy

Answer 134

- Childhood Absence Epilepsy (CAE): Characterised by typical absence seizures, with onset usually between 4-10 years - Juvenile Myoclonic Epilepsy (JME): Marked by myoclonic jerks, typically shortly after waking - Dravet Syndrome: Severe epilepsy beginning in infancy, initially presenting as prolonged seizures with fever - Lennox-Gastaut Syndrome: Characterised by multiple seizure types, cognitive dysfunction, and a specific EEG pattern

Answer 135

- Syncope: eg. Vasovagal syncope - Psychogenic Nonepileptic Seizures (PNES) - Cardiac syncope (e.g., arrhythmias or structural heart disease) - Hypoglycaemia - Hemiplegic migraine - Transient ischaemic attack - Alcohol withdrawal seizures: occurs in pts with a hx of chronic alcohol use who stop their alcohol intake too abruptly

Answer 136

- EEG (electroencephalogram) - can do prolonged EEG monitoring - MRI brain: used to diagnose structural pathology (eg. tumours) - ECG: rule out arrhythmias - Serum electrolytes: Na+, K+, Ca2+, Mg2+ - Blood glucose: rule out hypogylcaemia and diabetes - Blood cultures, urine cultures, and LP: where sepsis, encephalitis, or meningitis is suspected

Answer 137

- DVLA: license removed until specific criteria met (eg. seizure-free for 1 year) - Showers not baths: due to risk of drowning - Caution with swimming, heights etc. . (Note: carbamazepine can be used as 2nd line in generalised tonic-clonic seizures and focal seizures, BUT may exacerbate absence seizures and myoclonic seizures)

Answer 138

(most seziures terminate spontaneously - if not terminated after 5-10 mins then it is appropriate to administer medication) 1. Benzodiazepines (eg. diazepam) 2. If a pt continues to fit despite such measures then they are termed to have status epilepticus

Answer 139

- Increases activity of GABA (gamma-aminobutyric acid), which has a calming effect on the brain - Teratogenic (harmful in pregnancy)

Answer 140

- a seizure lasting more than 5 minutes - multiple seizures without regaining consciousness in the interim

Answer 141

1. ABCDE: secure airway, give oxygen, check blood glucose lvls, gain IV access (cannula) Medical treatment: 2. Benzodiazepine (eg. midazolam, diazepam, lorazepam) 3. (after 2 doses of benzos) IV levetiracetam, phenytoin, or sodium valproate

Answer 142

PNES = a type of seizure caused by psychological factors (not abnormal electrical activity in the brain)

Answer 143

PNES have NO: - EEG changes associated with epilepsy - Autonomic symptoms - Post-ictal confusion . PNES does: - have emotional triggers +/- hx of psychological trauma - forced eye closure

Answer 144

1. Once confirmed PNES and no epilepsy --> educate the pt 2. CBT + other mental health management

Answer 145

Sudden unexpected death in epilepsy: - exact cause remains unknown but possible mechanisms include cardiac arrhythmias, respiratory dysfunction, and cerebral depression post-seizure - good seizure control can reduce the potential risk of SUDEP

Answer 146

Myasthenia gravis = a chronic autoimmune neuromuscular disease, characterised by muscle weakness that progressively worsens with activity and improves with rest - Typically affects women under 40yrs and men over 60yrs

Answer 147

thymomas (thymus gland tumours)

Answer 148

General info: - Motor neurones communicate with muscles via the neuromuscular junction - the axons release a neurotransmitter called acetylcholine from the presynaptic membrane - acetylcholine travels across the synapse and attaches to receptors on the postsynaptic membrane --> simulating muscle contraction . 1. Acetylcholine receptor (AChR) antibodies are found in most patients with myasthenia gravis - these bind to postsynaptic acetylcholine receptors, blocking them and preventing stimulation by acetylcholine . 2. The more the receptors are used during muscle activity, the more they become blocked) - there is less effective stimulation of the muscle with increased activity - with rest, the receptors are cleared and symptoms improve . 3. These antibodies (AChR antibodies) also activate the complement system within the NMJ - leading to cell damage at the postsynaptic membrane, further worsening symptoms . 4. Two other antibodies (MuSK and LRP4) are affected - they are important proteins for the creation and organisation of the acetylcholine receptor - destruction of these proteins leads to inadequate acetylcholine receptors

Answer 149

Symptoms: - weakness that worsens with muscle use and improves with rest - typically best in morning and worst at end of the day - symptoms most affect proximal muscles of the limbs and small muscles of the head and neck (ocular muscles in 50% of pts) . Ways to exacerbate fatiguability in the muscles: - repeated blinking --> ptosis - prolonged upward gazing --> diplopia - repeated abduction of one arm 20 times --> unilateral weakness . O/E: - check for thymectomy scar - test forced vital capacity (FVC)

Answer 150

To monitor respiratory muscle function - risk of respiratory failure

Answer 151

1. Antibody tests: - AChR antibodies (present in about 85% of pts with generalised MG and 50% with ocular MG) - MuSK antibodies (anti-muscle-specific kinase) - LRP4 antibodies (anti-lipoprotein-related protein 4) 2. Electrophysiological studies: - repetitive nerve stimulation - single-fiber electromyography 3. CT or MRI of thymus - to look for a thymoma 4. Edrophonium test

Answer 152

1. Pts are give IV edrophonium chloride - normally, cholinesterase enzymes in the NMJ break down acetylcholine - edrophonium blocks these enzymes, reducing the breakdown of acetylcholine 2. As a result, the level of acetylcholine at the NMJ rises, temporarily relieving the weakness 3. A positive results suggests a diagnosis of myasthenia gravis

Answer 153

1. Acetylcholinesterase inhibitors: eg. Pyridostigmine (prolongs action of acetylcholine) 2. Immunosuppression: eg. prednisolone or azathioprine (suppresses antibody production) 3. Surgery: Thymectomy (can improve symptoms even in pts without a thymoma) 4. Rituximab (monoclonal antibody against B cells) - consider if other treatments fail

Answer 154

- Myasthenic crisis is an acute worsening of symptoms, often triggered by another illness (eg. respiratory tract infection) - Respiratory muscle weakness can lead to respiratory failure . Management: 1. IV immunoglobulins and plasmapheresis 2. +/- NIV or mechanical ventilation

Answer 155

a chronic, condition where there is a progressive reduction in dopamine in the basal ganglia - leading to disorders of movement

Answer 156

Classic triad of symptoms (usually asymmetrical): - Resting tremor ("pill-rolling tremor"): worse at rest - Muscle rigidity: resistance to passive movement of a joint (jerking resistance - "cogwheel rigidity") - Bradykinesia: movements get slower and smaller (eg. micrographia, "shuffling" gait) Other symptoms (non-motor): - Autonomic (urinary incontinence, constipation) - Depression, anxiety, and cognitive impairment - Sleep disturbances (acting out in sleep) - Loss of smell (anosmia)

Answer 157

Multiple system atrophy: - where neurones of various systems in the brain degenerate, including the basal ganglia - degeneration in the basal ganglia leads to a Parkinson's presentation - degeneration in other areas leads to autonomic dysfunction and cerebellar dysfunction (causing ataxia) . Dementia with Lewy bodies: - type of dementia associated with features of Parkinsonism - causes a progressive decline

Answer 158

UK Parkinson’s Disease Society Brain Bank Clinical Diagnostic Criteria

Answer 159

No cure - treatment is aimed at controlling symptoms: 1. Levodopa + carbidopa (Carbidopa is given along with levodopa (Co-careldopa) as it reduces the breakdown of levodopa peripherally, leading to a better therapeutic effect) 2. Monoamine oxidase-B (MAO-B) inhibitors 3. Dopamine agonists 4. Adjuvant therapy: physiotherapy + speech therapy + occupational therapy

Answer 160

- Levodopa is a precursor to dopamine - converted in both CNS and periphery - Carbidopa is a dopamine decarboxylase inhibitor - reduces the amount that is converted in periphery, thus increasing the amount available in the CNS (brain)

Answer 161

inhibitors of MAO-B, which are responsible for degrading dopamine, therefore increasing the amount of dopamine available - Monoamine oxidase enzymes break down neurotransmitters such as dopamine, serotonin and adrenaline - Monoamine oxidase-B is more specific to dopamine

Answer 162

mimic the action of dopamine in the basal ganglia, stimulating the dopamine receptors

Answer 163

- Fine tremor (6-12Hz) - Symmetrical/bilateral - "Action tremor" - exacerbated on voluntary movements - worse when tired/stressed/after caffeine - improved by alcohol

Answer 164

- Parkinson’s disease - Multiple sclerosis - Huntington’s chorea - Benign essential tremor - Hyperthyroidism - Fever - Dopamine antagonists (e.g., antipsychotics)

Answer 165

Medications that may improve symptoms: 1. Propranolol (a non-selective beta blocker) 2. Primidone (a barbiturate anti-epileptic medication)

Answer 166

- Huntington's = an inherited autosomal dominant genetic condition, it causes progressive neurological dysfunction - trinucleotide repeat disorder - genetic mutation in the HTT gene on chromosome 4, which codes for the Huntingtin (HTT) protein

Answer 167

Where successive generations have more repeats in the gene, resulting in: - Earlier age of onset - Increased severity of disease

Answer 168

Usually develops age 30-50yrs, presents with an insidious, progressive worsening of symptoms: Typically begins with cognitive, psychiatric, or mood problems - followed by development of movement disorders: - 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 (saccadic eye movements) - Dysarthria (speech difficulties) - Dysphagia (swallowing difficulties)

Answer 169

Genetic testing - identifies the CAG trinucleotide repeat expansion in the HTT gene on chromosome 4

Answer 170

Management involves an MDT approach, there is no treatment for slowing or stopping the progression of the disease: 1. Tetrabenazine: used for chorea symptoms 2. Antidepressants (eg. SSRIs): for depression (MDT: Physio, SLT, OT, palliative care)

Answer 171

50% chance - Huntington's is an autosomal dominant condition

Answer 172

Progressive condition, life expectancy is around 10-20yrs after othe nset of symptoms - death is often due to aspiration pneumonia or suicide

Answer 173

- an autoimmune condition affecting the NMJ - usually occurs with small-cell lung cancer

Answer 174

1. Antibodies against voltage-gated calcium channels (often produced in response to small cell lung cancer) 2. they target and damage voltage-gated calcium channels in the presynaptic membrane of the NMJ 3. Voltage-gated calcium channels are responsible for assisting in the release of acetylcholine into the synapse of the NMJ - acetylcholine travels across the synapse and attaches to receptors on the postsynaptic membrane, stimulating muscle contraction 4. When the voltage-gated calcium channels are destroyed, less acetylcholine is released into the synapse - resulting in a weaker signal and reduced muscle contraction

Answer 175

Symptoms improve after repeated muscle contractions (reverse of what is seen in myasthenia gravis) + ocular symptoms are not commonly a feature (unlike in myasthenia gravis): - Proximal muscle weakness (causing difficulty climbing stairs, standing from a seat, or raising arms overhead) - Autonomic symptoms (dry mouth, blurred vision, impotence, and dizziness) . O/E: - Reduced or absent tendon reflexes (hyporeflexia)

Answer 176

EMG - incremental response to repetitive electrical stimulation

Answer 177

1. Treatment of underlying cancer 2. Amifampridine (3,4-diaminopyridine): works by blocking voltage-gated potassium channels which in turn increases duration of action potential so calcium channels can be open for a longer time 3. immunosuppression (eg. prednisolone or azathioprine) 4. IV immunoglobulin and plasma exchange - may be beneficial

Answer 178

- an inherited disease that affects the peripheral motor and sensory neurones (hereditary peripheral neuropathy)

Answer 179

(Peripheral neuropathy - "stocking-glove" distribution) - High foot arches (pes cavus) - Distal muscle wasting - causing “inverted champagne bottle legs” - Lower leg weakness, particularly loss of ankle dorsiflexion (with a high stepping gait due to foot drop) - Weakness in the hands + distal muscle atrophy - Reduced tendon reflexes (hyporeflexia) - Reduced muscle tone - Peripheral sensory loss

Answer 180

- A – Alcohol - B – B12 deficiency - C – Cancer (e.g., myeloma) and Chronic kidney disease - D – Diabetes and Drugs (e.g., isoniazid, amiodarone, leflunomide and cisplatin) - E – Every vasculitis

Answer 181

Management is supportive (cannot stop progression) and requires an MDT approach: 1. MDT: neurologists + geneticists, physio, OT, podiatrist 2. Analgesia - for neuropathic pain (eg. amitriptyline) 3. Orthopaedic surgeons - for severe joint deformities

Answer 182

- GBS = an acute paralytic polyneuropathy that affects the peripheral nervous system. It causes acute, symmetrical, ascending weakness and can also cause sensory symptoms - usually triggered by an infection and is particularly associated with to Campylobacter jejuni, cytomegalovirus (CMV) and Epstein-Barr virus (EBV).

Answer 183

- Progressive, symmetrical, and ascending weakness of all 4 limbs - Reduced reflexes (hyporeflexia) . - +/- cranial nerve involvement (facial weakness) - +/- autonomic involvement (eg. urinary retention, diarrhoea)

Answer 184

Diagnosis is primarily clinical (Brighton criteria), supported by investigations: - Nerve conduction studies: shows reduced signal through nerves - Lumbar puncture: raised protein with a normal WCC and glucose

Answer 185

1. Supportive care 2. VTE prophylaxis (pulmonary embolism is a leading cause of death) 3. IV immunoglobulins (IVIG) first-line 4. Plasmapheresis (is an alternative to IVIG) 5. If resp. failure: intubation, ventilation, and admission to ICU (FVC regularly to monitor respiratory function)

Answer 186

- Recovery can take months to years - Pts can continue regaining function five years after the acute illness - Most pts eventually make either a full recovery or are left with minor symptoms - Some are left with significant disability - Mortality is around 5%, - mainly due to respiratory or CVD complications

Answer 187

- a genetic condition that causes nerve tumours (neuromas) to develop throughout the nervous system - these tumours are benign but can cause neurological and structural problems - Neurofibromatosis type 1 is more common than neurofibromatosis type 2

Answer 188

- Mutations in this gene are inherited in an autosomal dominant pattern (but can occur de novo) - NF1 gene is found on chromosome 17 - it codes for a protein called neurofibromin, which is a tumour suppressor protein

Answer 189

"CRABBING": - 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

Answer 190

ManaInvolves monitoring, managing symptoms, and treating complications: - Lots of complications, two unique ones for NF1 are malignant peripheral nerve sheath (MPNST) and gastrointestinal stromal tumours (GIST)

Answer 191

- autosomal dominant inheritance pattern - NF2 gene is found on chromosome 22 - codes for a protein called merlin (tumour suppressor protein important in Schwann cells)

Answer 192

Acoustic neuromas (tumours of the auditory nerve that innervates the inner ear) - Note: an exam pt with bilateral acoustic neuromas almost certainly has NF type 2

Answer 193

1. mutations in either: - TSC1 gene on chromosome 9, which codes for hamartin - OR TSC2 gene on chromosome 16, which codes for tuberin (Hamartin and tuberin interact with each other to control the size and growth of cells - abnormalities in one of these proteins lead to abnormal cell size and growth) 2. The characteristic feature is the development of hamartomas, which are benign tissue growths - hamartomas cause problems based on the location of the lesion

Answer 194

Skin features: - Ash leaf spots (depigmented areas of skin shaped like an ash leaf) - 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) . Neuro features: - Epilepsy - Learning disability/Autism - Brain tumours . Other features: - Angiomyolipoma in the kidneys - Lymphangioleiomyomatosis in the lungs (affects women) - Rhabdomyomas in the heart

Answer 195

- Motor: ataxia, dysmetria, dysdiadochokinesia - Speech: scanning dysathria - Eye movement: Nystagmus - Intention tremor - Postural instability - Hypotonia

Answer 196

- Finger-to-nose and heel-to-shin tests (assess dysmetria). - Rapid alternating movements (for dysdiadochokinesia). - Observation of gait and stance (wide-based gait, Romberg test negative).

Answer 197

DANISH: - D: Dysdiadochokinesia - A: Ataxia - N: Nystagmus - I: Intention Tremor - S: Scanning Speech - H: Hypotonia

Answer 198

- Amyloid plaques (beta-amyloid) - Neurofibrillary tangles: caused by abnormal aggregation of hyperphosphorylated tau protein - Neuroinflammation - Brain atrophy - reduced cholinergic activity

Answer 199

Insidious onset (over months/years), concerns from family members often prompt the pt to seek help - Cognitive impairment: memory loss (progressive episodic), reasoning and comms problems, decision-making/executive function, nominal dysphasia - Behavioural and psychological symptoms: depression, agitation, psychosis, apathy, disinhibition - Difficulties with ADLs

Answer 200

1. Cognitive testing: - eg. MoCA - eg. Addenbrooke's cognitive examination III (ACE-III) 2. Blood tests (to exclude a physical cause before referring to memory clinic): FBC, electroyltes, LFTs, TFTs, vit B12, folate 3. Imaging: MRI brain to exclude other cerebral pathology (note: in AD, atrophy usually seen in the medial temporal lobe structures)

Answer 201

- Attention - Memory - Language - Visuospatial function - Verbal fluency . - a score of 88 or less - indicates possible dementia

Answer 202

There is no cure, but symptoms can be managed: 1. Acetylcholinesterase inhibitors: eg. donepezil, rivastigmine, or galantamine) 2. Memantine (NMDA receptor antagonist) (Note: it is important to plan ahead (eg. lasting power of attorney, advanced decisions, planning future care)

Answer 203

1. Alzheimer's disease 2. Vascular dementia 3. Lewy Body dementia 4. Frontotemporal dementia

Answer 204

1. Stroke-related VD - multi-infarct or single-infarct dementia 2. Subcortical VD - caused by small vessel disease 3. Mixed dementia - the presence of both VD and Alzheimer's disease

Answer 205

- History of stroke or (TIA) - Atrial fibrillation - Hypertension - Diabetes mellitus - Hyperlipidaemia - Smoking - Obesity - Coronary heart disease - Family hx of stroke or CVD

Answer 206

- alpha-synuclein cytoplasmic inclusions (Lewy bodies) in the substantia nigra, paralimbic and neocortical areas - Parkinsonism +/- visual hallucinations

Answer 207

rarer type of dementia that notably affects people at a younger age (starting aged 40-60)

Answer 208

typically involves abnormalities in behaviour, speech and language

Answer 209

- chorea - hypersexual, gambling, addiction

Answer 210

Holmes-Adie pupil + absent ankle and knee reflexes

Answer 211

X-linked recessive - primarily affects males

Answer 212

Dystrophin gene

Answer 213

- Duchenne's: more severe and earlier onset Clinical features: - Proximal muscle weakness - Gower's sign - Waddling gait (weakness in pelvic muscles) - Calf pseudohypertrophy - Intellectual impairment

Answer 214

Investigations: - Creatine kinase (CK): raised (due to muscle breakdown) - Genetic testing: dystrophin gene Management: - MDT + managing complications (dilated cardiomyopathy, resp. failure) - Corticosteroids (to improve muscle function)

Answer 215

- Cerebral palsy: a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain (antenatal cause) - Spastic (hemiplegia, diplegia, or quadrariplegia) +/- learning difficulties/epilpesy/squints Management: - MDT approach - For spasticity: oral diazepam, baclofen, botulinum toxin, surgery - (anticonvulsants + analgesia as required)

Answer 216

Dysdiadochokinesia Ataxia (gait and posture) Nystagmus Intention tremor Slurred, staccato speech Hypotonia/heel-shin test