Neurology - Other Flashcards
What is developmental delay?
A significant lag in a child’s physical, cognitive, behavioural, emotional, or social development, relative to established growth milestones.
Red flags of development:
a) smile
b) sit unsupported
c) walk
a) doesn’t smile at 10 weeks old
b) cannot sit unsupported at 12 months old
c) cannot walk at 18 months old
What does hand preference before 12 months indicate?
Cerebral palsy
What are some causes of speech and language problems?
- congenital deafness
- environmental deprivation
- general development delay
Causes of developmental delay.
- ASD
- cerebral palsy
- fragile X syndrome
- Down syndrome
- fetal alcohol spectrum disorder (FASD)
What is chorea?
Involuntary, rapid, jerky movements which often move from one part of the body to another.
Pathophysiology of chorea.
Damage to the basal ganglia, in particular the caudate nucleus.
Causes of chorea.
- Huntington’s disease
- Wilson’s disease
- SLE
- anti-phospholipid syndrome
- antipsychotics
- pregnancy
- thyrotoxicosis
- carbon monoxide poisoning
What is hemiballism?
Involuntary, sudden, jerking movements of the proximal limb contralateral to the side of the lesion.
NB: A type of chorea.
Pathophysiology of hemiballism.
Damage to the subthalamic nucleus.
Treatment of hemiballismus.
Antidopaminergic agents (e.g. haloperidol) are the mainstay of treatment.
Genetics of Huntington’s disease.
Autosomal dominant repeat expansion of CAG.
As it is a trinucleotide expansion, the phenomenon of anticipation may be seen (ie. disease presents at an earlier age in successive generations).
Pathophysiology of Huntington’s disease.
Degeneration of cholinergic and GABAergic neurons in the striatum of the basal ganglia.
Features of Huntington’s disease.
Typically develop after 35 years of age:
- chorea
- personality changes (e.g. irritability, apathy, depression)
- intellectual impairment
- dystonia
- saccadic eye movements
What is an oculogyric crisis?
The spasmodic movement of the eyeballs into a fixed position, usually upwards
Causes of oculogyric crisis.
- antipsychotics
- metoclopramide
- Parkinson’s disease
Management of oculogyric crisis.
- cessation of causative medication
- IV antimuscarinic (procyclidine)
Clinical features of restless leg syndrome.
- uncontrollable urge to move legs
- paraesthesia
- movements during sleep
Causes of restless leg syndrome.
- genetics
- iron deficiency anaemia
- uraemia
- diabetes mellitus
- pregnancy
Management of restless legs syndrome.
Simple measures: walking, stretching, massaging affected limbs.
Treat any iron deficiency.
First line: dopamine agonists (e.g. ropinirole).
What is Wilson’s disease?
Autosomal recessive disorder causing abnormal copper deposition in the tissues.
Features of Wilson’s disease.
Symptom onset from 10-25 years:
- hepatitis and cirrhosis
- chorea
- dementia
- parkinsonism
- Kayser-Fleischer rings
- renal tubular acidosis
- haemolysis
- blue nails
Investigations of Wilson’s disease.
- reduced serum caeruloplasmin
- reduced total serum copper
- increased free serum copper
- increased urinary copper excretion
Management of Wilson’s disease.
First line (current): penicillaemine - chelates copper.
What is insomnia?
The difficulty initiating or maintaining sleep, or early-morning waking that leads to dissatisfaction with sleep quality or quantity.
Causes of acute insomnia.
Often related to a life event and resolves without treatment.
Presentation of insomnia.
- fatigue
- decreased periods of sleep
- decreased daytime functioning
- poor concentration / attention
Often the partner’s rest will also suffer.
NB: Important to identify the cause of insomnia, as management can differ.
Risk factors for insomnia.
- increased age
- unemployment
- alcohol / substance abuse
- stimulant usage
- corticosteroids
- chronic pain
- poor sleep hygiene
- psychiatric illness (e.g. anxiety, depression, mania, PTSD)
Investigating insomnia.
Diagnosis is primarily made through patient interview.
Sleep diaries may aid diagnosis.
Short term management of insomnia.
- identify potential causes
- sleep hygiene measures
- advise the person not to drive while sleepy
Long-term management of insomina.
If daytime sleepiness is SEVERE, can consider Z drug prescription (e.g. zopiclone).
Consider referral for cognitive behavioural therapy if not fixed within 2 weeks.
What is polymyalgia rheumatica?
Underlying cause is not understood.
PMR is relatively common and seen in older people, characterised by proximal muscle stiffness and raised inflammatory markers.
Features of PMR.
- age >60 years
- rapid onset (<1 month)
- morning stiffness in proximal limb muscles*
- polyarthralgia
*weakness is NOT a symptom of PMR.
Investigations of PMR.
- raised ESR
- CK normal
- EMG normal
Treatment of PMR.
- prednisolone
pts typically respond dramatically to steroids - failure to do so should prompt consideration of an alternative diagnosis.
What is motor neuron disease?
A neurological condition of unknown cause which can present as both upper and lower motor neuron signs.
Pathophysiology of motor neurone disease.
Progressive degeneration of the upper and lower motor neurones, resulting in motor deficit.
NB: sensory neurones are spared; sensory deficit should suggest an alternate diagnosis.
Lower motor neurone signs.
- hypotonia
- hyporeflexia
- rapid muscle wasting
- weakness and paralysis
Upper motor neuron signs.
- hypertonia
- hyperreflexia
- muscle mass maintained
Features of amyotrophic lateral sclerosis (MND).
- LMN signs in arms
- UMN signs in legs
Features of primary lateral sclerosis (MND).
- UMN signs only in arms and legs
Features of progressive. muscular atrophy (MND).
- LMN signs only in arms and legs
- affects distal muscles before proximal
Features of progressive bulbar palsy (MND).
- palsy of tongue
- palsy of mastication muscles
Which type of MND is most common?
Amyotrophic lateral sclerosis (50%)
Which type of MND carries the best prognosis?
Progressive muscular atrophy
Which type of MND carries the worst prognosis?
Progressive bulbar palsy
Loss of function of brainstem motor nuclei - eventual cardiorespiratory compromise.
Medical management of motor neuron disease.
Give MOA.
Riluzole
Prevents stimulation of glutamate receptors.
Prolongs life by around 3 months.
Non-pharmacological management of motor neuron disease.
Respiratory care - BIPAP at night gives survival benefit of around 7 months.
Nutrition - PEG to support nutrition.
Prognosis of motor neuron disease.
50% of patients die within 3 years.
Poor prognosis.
What is multiple sclerosis?
Chronic cell-mediated autoimmune disorder characterised by demyelination in the central nervous system.
Causes of multiple sclerosis.
- multiple genes
- EBV
- low vitamin D
- smoking
- obesity
What is the most common subtype of multiple sclerosis?
Relapsing-remitting type.
Acute attacks (lasting 1-2 months) followed by periods of remission as re-myelination occurs.
Lesions vary in location, meaning the affected sites and symptoms change over time.
What is secondary progressive multiple sclerosis?
When relapsing-remitting patients deteriorate, they develop permanent neurological signs and symptoms between relapses.
This is due to an inability to remyelinate axons in the CNS.
Most patients with relapsing-remitting disease go on to develop secondary progressive disease within 15 years of diagnosis.
Features of multiple sclerosis.
- optic neuritis (most common)
- pins and needles
- numbness
- trigeminal neuralgia
- spastic weakness in legs
- ataxia
- tremor
- urinary incontinence
- sexual dysfunction
- intellectual deterioration
What is optic neuritis?
Demyelination of the optic nerve presenting with unilateral reduced vision.
Optic neuritis
a) symptoms
b) signs
a) enlarged central blind spot; pain with eye movement; impaired colour vision;
b) relative afferent pupillary defect
What is relative afferent pupillary defect?
Direct pupillary reflex: reduced pupillary constriction in affected eye.
Consensual pupillary reflex: normal pupillary constriction in affected eye.
Diagnosis of mutliple sclerosis.
Clinical diagnosis over time - demonstration of lesions disseminated in time and space.
Investigations may support the diagnosis:
- MRI scan (demonstrate typical lesions)
- lumbar puncture (oligoclonal bands in CSF)
Management of acute MS relapse.
High dose steroids - usually responsive to a course of steroids.
Relapse reduction in MS.
Disease modifying drugs (DMARDs) - monoclonal antibodies that appear to help slow / prevent demyelination.
How is fatigue associated with MS managed?
Exclude other causes (e.g. anaemia, thyroid, depression).
NICE recommend a trial of amantadine; other options include mindfulness and CBT.
How is spasticity associated with MS managed?
Baclofen or Gabapentin
Physiotherapy is important.
How is bladder dysfunction associated with MS managed?
Ultrasound to assess residual volume.
If significant residual volume: intermittent self-catheterisation.
If no significant residual volume: anticholinergics may improve urinary frequency.
Complications of MS.
- fatigue
- neurological deficity
- incontinence
- retention
Inheritance pattern for Duchenne muscular dystrophy.
X-linked recessive
Pathophysiology of Duchenne muscular dystrophy.
Inherited mutation in dystrophin genes, required for normal muscular function.
Features of Duchenne muscular dystrophy.
- progressive proximal muscle weakness from age 5 years
- calf pseudohypertrophy
- intellectual impairment
- Gower’s sign (see image)
Investigations of Duchenne muscular dystrophy.
- raised CK
- genetic testing
Prognosis of Duchenne muscular dystrophy.
- most children cannot walk by the age of 12 years
- patients survive to around the age of 25-30 years
- associated with dilated cardiomyopathy
What is myotonic dystrophy?
An inherited myopathy affecting skeletal, cardiac and smooth muscle.
Inheritance of myotonic dystrophy.
Autosomal dominant trinucleotide repeat.
DM1 caused by DMPK mutation.
DM2 caused by ZNF9 mutation.
Features of myotonic dystrophy.
Onset around 20-30 years:
- tonic muscle spasms
- weakness of arms and legs
- testicular atrophy
- heart block
- dysphagia
Clinical features to differentiated DM1 and DM2.
DM1: distal weakness more prominent.
DM2: proximal weakness more prominent.
What is myasthenia gravis?
An autoimmune disorder resulting in insufficient functioning acetylcholine receptors.
Features of myasthenia gravis.
- fatigability (ie. muscles become progressively weaker during periods of activity, and slowly improve after periods of rest)
- diplopia
- proximal muscle weakness
- ptosis
- dysphagia
Associations of myasthenia gravis.
Thymoma - thymus gland tumours.
Other autoimmune disorders:
- pernicious anaemia
- autoimmune thyroid disorder
- rheumatoid arthritis
- SLE
Investigations of myasthenia gravis.
Antibody test to look for:
- AChR antibodies (~80%)
- MuSK antibodies
- LRP4 antibodies
CT or MRI of thymus to look for thymoma.
Management of myasthenia gravis.
Long-acting acetylcholinesterase inhibitors (e.g. pyridostigmine).
As the disease progresses, immunosuppression with steroids may become necessary.
How to elicit fatiguability in muscles (myasthenia gravis).
- repeated blinking exacerbates ptosis
- prolonged upward gaze induces diplopia
- repeated abduction of one arm results in weakness
NB: also check for thymectomy scar.
What is a myasthenic crisis?
Another illness, such as respiratory infection, causes an acute worsening of symptoms.
Respiratory muscle weakness can lead to respiratory failure - patients may need non-invasive ventilation or mechanical ventilation.
Treatment of myasthenic crisis.
- plasmapheresis
- IV immunoglobulins
Which drugs may exacerbate myasthenia?
- penicillamine
- quinidine
- beta blockers
- lithium
- phenytoin
- gentamicin
- macrolides
- quinolones
- tetracyclines
Differential diagnoses of a tremor.
- benign essential tremor
- Parkinson’s disease
- multiple sclerosis
- Huntington’s chorea
- hyperthyroidism
- fever
- dopamine antagonists (e.g. antipsychotics)
Presentation of brain tumours.
- asymptomatic
- progressive focal neurology
- raised intracranial pressure
What is the concern of an usual change in personality and behaviour?
Frontal lobe tumour - responsible for personality and higher-level decision making.
Causes of intracranial hypertension.
- brain tumours
- intracranial haemorrhage
- idiopathic
- asbcess
- infection
Features of intracranial hypertension.
- constant headache
- worse on waking
- worse on coughing
- vomiting
- papilloedema on fundoscopy
What is papilloedema?
Swelling of the optic disk secondary to raised intracranial pressure.
The raised CSF pressure increases pressure around the optic nerve, causing the optic disc to bulge forwards.
What are the glial cells?
- astrocytes
- oligodendrocytes
- epdenymal cells
What are gliomas?
Tumours of the glial cells in the brain or spinal cord.
Astrocytoma (most common)
Oligodendroglioma
Ependymoma
What is a meningioma?
Tumours growing from the cells of the meninges.
Benign but have mass effect, leading to raised intracranial pressure and neurological symptoms.
Cancers that most often spread to the brain.
- lung
- breast
- renal cell carcinoma
- melanoma
What visual field defect is seen with pituitary tumours?
Bitemporal hemianopia, due to compression of the decussating nasal fibres in the optic chiasm.
Management of pituitary tumours.
- trans-sphenoidal surgery
- radiotherapy
- bromocriptine (blocks excess prolactin)
- somatostatin analogues (blocks growth hormone)
What is an acoustic neuroma?
A benign tumour of the Schwann cells surrounding the auditory nerve.
Presentation of acoustic neuroma.
- unilateral sensorineural hearing loss
- unilateral tinnitus
- dizziness / imbalance
- sensation of fullness in ear
- facial nerve palsy
NB: See image for relevant anatomy & link to symptoms.
Management of vestibular schwannoma.
- conservative
- surgery
- radiotherapy
Management of brain tumours.
- MRI scan
- biopsy for histological diagnosis
MDT involvement:
- surgery
- chemotherapy
- radiotherapy
- palliative care
Pathophysilogy of Lamberton-Eaton myasthenic syndrome?
Paraneoplastic NSCLC, producing autoantibodies targeting voltage-gated calcium channels in the presynaptic terminal, meaning less acetylcholine is released into the synaptic cleft.
This results in a weaker signal and reduced muscle contraction.
Presentation of Lamberton-Eaton myasthenic syndrome.
- proximal muscle weakness (ie. difficultly climbing stairs, standing from seat)
- autonomic dysfunction (ie. dry mouth, blurred vision, impotence, dizziness)
- hypo-/areflexia
How can Lambert-Eaton myasthenic syndrome and myasthenia gravis be differentiated?
Myasthenia gravis: fatiguable muscle weakness.
Lambert-Eaton: muscle weakness improves on exercise.
Management of Lambert-Eaton myasthenic syndrome.
Exclude underlying malignancy.
FIRST LINE: Amifampridine - blocks voltage gated potassium channels in the presynaptic terminal.
Consider: pyridostigmine (cholinesterase inhibitor); immunosuppressants; IV immunoglobulins; plasmapheresis.
Pathophysiology of Charcot-Marie-Tooth disease.
Inherited disease affecting peripheral motor and sensory neurones.
Features of Charcot-Marie-Tooth disease.
- high foot arches
- distal muscle wasting
- lower leg weakness
- weakness in hands
- hyporeflexia
- hypotonia
- peripheral sensory loss
What is peripheral neuropathy?
Reduced sensory and motor function in the peripheral nerves, typically affecting the feet and hands.
Causes of peripheral neuropathy.
ABCDE mnemonic:
Alcohol
B12 deficiency
Cancer (e.g. myeloma) and CKD
Diabetes / Drugs
Every vasculitis
Drugs that cause peripheral neuropathy.
- isoniazid
- amiodarone
- leflunomide
- cisplatin
Management of Charcot-Marie-Tooth disease.
Supportive management:
- neurologists
- physiotherapists
- occupational therapists
- podiatrists
- analgesia
- othopaedic surgeons
