Neurology revision

Syringomyelia results from the formation of a fluid filled cavitation (called

a syrinx) within the central canal of the spinal cord. The most common
cause of a syrinx is obstruction to the flow of cerebrospinal fluid (CSF) by
an Arnold Chiari malformation. An Arnold Chiari malformation is a
developmental abnormality in which the cerebellar tonsils project through
the foramen magnum and sit in a position which is normally occupied by
the cervical spinal cord.

In this case the patient has features suggestive of an underlying Arnold

Chiari malformation: occipital headache exacerbated by valsalva
manoeuvre (coughing, sneezing and straining), pes cavus and cerebellar
signs (past pointing and intention tremor in the upper limbs).

She also has features of an associated syringomyelia. The spinothalamic

tracts are involved early in the process due to their decussation within the
cord. This means that there is loss of pain and temperature sensation
corresponding to the level of the syrinx. This often occurs in a shawl-like
distribution. Hyperalgesia and allodynia are also seen in the upper limbs in
some cases.

As the syrinx enlarges the dorsal columns are affected resulting in loss of
proprioception and vibration sensation in the lower limbs. This explains
the positive Rombergs test which indicates that there is a proprioceptive
problem.

If the syrinx expands further the anterior horn cells can be affected
resulting in wasting and weakness in the hands.

Why not HSMN? Because reflexes are preserved and there is no wasting of
legs or hands. Also it does not explain the headache. Also selective loss of
posterior column sensations in the lower limb, and spinothalamic tract
sensations in upper limb are not explained.
Why not Freidrich's ataxia? It involves the posterior column, dorsal root
ganglia and corticospinal tracts in the spinal cord with minor cerebellar
degeneration. So lower limb deep tendon reflexes are absent and plantars
are extensor.
Why Syringomyelia? Explains the headache which is increased by Valsalva
manouvers, explains the loss of pain and temperature in the upper limb.
The atypical features are absence of LMN signs in the upper limb and UMN
signs in the lower limb and the presence of posterior column signs in the
lower limb. This can only be explained by a syrinx which has extended
posteriorly rather than anteriorly.

Retinitis Pigmentosa (RUALKA):

1.Refsum disease: cerebellar ataxia, peripheral neuropathy, deafness,
ichthyosis, anosmia
2.Usher syndrome: deafness
3.Abetalipoproteinemia
4.Lawrence-Moon-Biedl syndrome
5.Kearns-Sayre syndrome: opthalmoplegia
6.Alport's syndrome

Kearns-Sayre syndrome, a mitochondrial disorder. Individuals usually

present <20 years-of-age with progressive external ophthalmoplegia.
Ptosis usually develops first, followed by difficulties with horizontal gaze.
Patients don't usually complain of diplopia as the extraocular muscle
weakness is symmetrical.

Affected patients also usually suffer from pigmentary retinopathy, which

causes atrophy of the retinal pigment with bony spicule formation typical
of retinitis pigmentosa. As the changes progress, patients often complain
of funnel-vision and night blindness.

Cardiac conduction defects usually develop after the onset of

ophthalmoplegia and sudden death may occur as a result. Regular cardiac
follow-up is essential. Other abnormalities include cerebellar ataxia,
sensorineural deafness, muscle weakness and diabetes mellitus.

Central retinal artery occlusion

Central retinal artery occlusion is a relatively rare cause of sudden

unilateral visual loss. It is due to thromboembolism (from atherosclerosis)
or arteritis (e.g. temporal arteritis)

Features

 sudden, painless unilateral visual loss

 relative afferent pupillary defect
 'cherry red' spot on a pale retina
Management is difficult and the prognosis is poor

 any underlying conditions should be identified and treated (e.g.

intravenous steroids for temporal arteritis)
 if a patient presents acutely then Intraarterial thrombolysis may be
attempted but currently, trials show mixed results.

Central retinal vein occlusion presents differently. Patients often

complain of sudden or gradual vision loss. On fundoscopy, there are
widespread retinal haemorrhages ('blood and thunder' appearance) and
cotton wool spots due to blockage of the central retinal vein leading to
increased pressure and subsequent leakage from other vessels.

Subhyaloid haemorrhage presents with sudden visual loss or floaters

but does not typically cause RAPD. On fundoscopy, you would see a pre-
retinal (subhyaloid) haemorrhage which appears as a dark red, boat-
shaped mass located between the retina and vitreous humour.

Solar retinopathy results from direct solar radiation damage to the

macula leading to central scotoma (blind spot). The typical fundoscopic
finding is yellowish dots at the level of RPE in fovea.

Lastly, Optic neuritis, commonly associated with multiple sclerosis,

typically presents with painful vision loss over days accompanied by
dyschromatopsia (impaired colour vision). However, fundoscopy may
initially appear normal or show mild disc swelling rather than the findings
described here.

Head injury: types of traumatic brain injury

Basics

 primary brain injury may be focal (contusion/haematoma) or diffuse

(diffuse axonal injury)
 diffuse axonal injury occurs as a result of mechanical shearing
following deceleration, causing disruption and tearing of axons
 intra-cranial haematomas can be extradural, subdural or
intracerebral, while contusions may occur adjacent to (coup) or
contralateral (contre-coup) to the side of impact
 secondary brain injury occurs when cerebral oedema, ischaemia,
infection, tonsillar or tentorial herniation exacerbates the original
injury. The normal cerebral auto regulatory processes are disrupted
following trauma rendering the brain more susceptible to blood flow
changes and hypoxia
  the Cushings reflex (hypertension and bradycardia) often occurs late
and is usually a pre terminal event

Type of injury Notes

Bleeding into the space between the dura mater and the skull. Often results from acceleration-
deceleration trauma or a blow to the side of the head. The majority of epidural haematomas
occur in the temporal region where skull fractures cause a rupture of the middle meningeal
artery.
Extradural
(epidural) Features
haematoma

 features of raised intracranial pressure

 some patients may exhibit a lucid interval

Bleeding into the outermost meningeal layer. Most commonly occur around the frontal and
parietal lobes.
Subdural
Risk factors include old age, alcoholism and anticoagulation.
haematoma
Slower onset of symptoms than a epidural haematoma. There may be fluctuating
confusion/consciousness
Classically causes a sudden occipital headache. Usually occurs spontaneously in the context
Subarachnoid
of a ruptured cerebral aneurysm but may be seen in association with other injuries when a
haemorrhage
patient has sustained a traumatic brain injury
An intracerebral (or intraparenchymal) haemorrhage is a collection of blood within the
substance of the brain.

Causes / risk factors include: hypertension, vascular lesion (e.g. aneurysm or arteriovenous
malformation), cerebral amyloid angiopathy, trauma, brain tumour or infarct (particularly in
stroke patients undergoing thrombolysis).
Intracerebral
haematoma Patients will present similarly to an ischaemic stroke (which is why it is crucial to obtain a CT
in head in all stroke patients prior to thrombolysis) or with a decrease in consciousness.

CT imaging will show a hyperdensity (bright lesion) within the substance of the brain.

Treatment is often conservative under the care of stroke physicians, but large clots in patients
with impaired consciousness may warrant surgical evacuation.

Image gallery

Extradural (epidural) haematoma:

Subdural haematoma:
Subarachnoid haemorrhage:
Capgras syndrome

Capgras syndrome refers to a disorder in which a person holds a delusion

that a friend or partner has been replaced by an identical-looking
impostor.

Firstly, this woman has features that suggest delirium having a factor to
play in her presentation: fever, acute cognitive impairment, infective
symptoms, recent treatment for a highly resistant infection.

Late-onset schizophrenia is very rare and when it does occur has no

association with family history of mental health problems or personal
history of depression. In addition, the duration of symptoms is probably
too rapid for late onset schizophrenia.

Secondly, the woman is describing a delusion where she believes her

husband to be replaced by an imposter. This is known as Capgras
syndrome and can be seen in organic states such as delirium as well as in
schizophrenia. It is rare but is most commonly seen in older women. The
delusion most commonly relates to a life partner and can sometimes lead
to serious violence being perpetrated against the supposed imposter.

Cotard syndrome is a nihilistic delusion seen in severely depressed

people where they believe that they, or a part of their body is dead.

In Fregoli syndrome, the patient believes that an individual (who is

almost always a persecutory figure and someone close to them) has taken
on many different guises. This syndrome is named after an artist called
Leopoldo Fregoli renowned for his ability to change costumes very quickly.
A person with Fregoli syndrome will identify several different strangers as
being the persecutor in disguise.

Transient ischaemic attacks (TIAs) rarely cause loss of consciousness.

Whilst the patient is young for a TIA it does not completely exclude this as
a possibility, especially given his risk factors. Whilst anti-platelets are a
preventative measure they do not cause a complete risk reduction.
Crossed patterns of weakness can occur with a posterior circulation TIA.
Finally, the timing of the symptoms is actually supportive of a TIA with
sudden onset and quick, complete recovery.

Transient ischaemic attack

A transient ischaemic attack (TIA), as the name suggests, is a brief period

of neurological deficit due to a vascular cause, typically lasting less than
an hour. The National Clinical Guideline for Stroke was published in 2023
and made a number of updated recommendations, including the use of
dual antiplatelet therapy (DAPT). It should be noted that DAPT is not
currently recommended for 'major' ischaemic stroke as the risk of
haemorrhagic transformation is too high.

The original definition of a TIA was time-based: a sudden onset of a focal

neurologic symptom and/or sign lasting less than 24 hours, brought on by
a transient decrease in blood flow. However, this has now changed as it is
recognised that even short periods of ischaemia can result in pathological
changes to the brain. Therefore, a new 'tissue-based' definition is now
used: a transient episode of neurologic dysfunction caused by focal brain,
spinal cord, or retinal ischaemia, without acute infarction. REF

Patients often use the term 'mini-stroke' for TIAs.

Clinical features

The clinical features are similar to those of a stroke, i.e. sudden onset,
focal neurological deficit but, rather than persisting, the features resolve,
typically within 1 hour.

Possible features include

 unilateral weakness or sensory loss.

 aphasia or dysarthria
 ataxia, vertigo, or loss of balance
 visual problems
o sudden transient loss of vision in one eye (amaurosis fugax)
o diplopia
o homonymous hemianopia

Assessment and referral

Patients with acute focal neurological symptoms that resolve completely

within 24 hours of onset (i.e. suspected TIA) should:

 be given aspirin 300 mg immediately unless contraindicated

 assessed urgently within 24 hours by a stroke specialist clinician

Examples of TIA mimics that require exclusion

 hypoglycaemia
 intracranial haemorrhage
o all patients on anticoagulants or with similar risk factors
should be admitted for urgent imaging to exclude
haemorrhage

If a patient presents more than 7 days ago they should be seen by a

stroke specialist clinician as soon as possible within 7 days.

The ABCD2 prognostic score has previously been used to risk stratify
patients who present with a suspected TIA. However, data from studies
have suggested it performs poorly and it is therefore no longer
recommended.
Patients with suspected TIA should be assessed by a stroke specialist
clinician before a decision on brain imaging NICE

 NICE recommend that CT brains should not be done 'unless there is

clinical suspicion of an alternative diagnosis that CT could detect'
o an example exception would be when there is a concern about
haemorrhage as the patient is taking anticoagulants
 MRI (including diffusion-weighted and blood-sensitive sequences) is
preferred to determine the territory of ischaemia, or to detect
haemorrhage or alternative pathologies
o it should be done on the same day as the specialist
assessment if possible

Management of TIA

It should be remembered that patients who've had a TIA are at high risk of
further vascular events, particularly in the first few days. This section
covers management following a diagnosis, i.e. after being seen by a
stroke specialist clinician.

Medication

Immediate antithrombotic therapy: REF

 patients with TIA or minor ischaemic stroke should be given

antiplatelet therapy provided there is neither a contraindication nor
a high risk of bleeding
 for patients within 24 hours of onset of TIA or minor ischaemic
stroke and with a low risk of bleeding, the following DAPT
regimes should be considered:
o clopidogrel (initial dose 300 mg followed by 75 mg od) +
aspirin (initial dose 300 mg followed by 75 mg od for 21 days)
followed by monotherapy with clopidogrel 75 mg od
o ticagrelor + clopidogrel is an alternative
 if not appropriate for DAPT:
o clopidogrel 300 mg loading dose followed by 75 mg od should
be given
 proton pump inhibitor therapy should be considered for DAPT

The different antithrombotic recommendations may seem confusing - it is

helpful to think of 3 different phases for a typical patient:
 Long-term
Resolved TIA symptoms, Reviewed by specialist,
secondary
awaiting specialist review initial 21 days when at high
prevention after 21
within 24 hours risk of further events
days
Aspirin Aspirin + Clopidogrel Clopidogrel

If a patient has atrial fibrillation they should be anticoagulated as soon as

intracranial haemorrhage has been excluded.

Lipid modification

 high-intensity statin (such as atorvastatin 20-80 mg daily) - the aim

of statin therapy is to reduce non-HDL cholesterol by more than
40%

Further investigation

Carotid imaging

 atherosclerosis in the carotid artery may be a source of emboli in

some patients
 patients who are considered candidates for carotid intervention
should have carotid imaging performed within 24 hours of
assessment
o carotid duplex ultrasound or either CT angiography or MR
angiography
 carotid endarterectomy is recommend if the patient has suffered a
stroke or TIA in the carotid territory and is not severely
disabled NICE
o should only be considered if the stenosis > 50% according to
North American Symptomatic Carotid Endarterectomy Trial
(NASCET) criteria

+ it should be noted that previous guidelines have used other reporting

methods, that have resulted in different cut-offs, e.g. European Carotid
Surgery Trial (ECST) with a cut-off of 70%

 it should be performed as soon as possible within 7 days

Brain lesions
The following neurological disorders/features may allow localisation of a
brain lesion:

Gross anatomy

Parietal lobe lesions

 sensory inattention
 apraxias
 astereognosis (tactile agnosia)
 inferior homonymous quadrantanopia
 Gerstmann's syndrome (lesion of dominant
parietal): alexia, acalculia, finger agnosia and right-left
disorientation

Occipital lobe lesions

 homonymous hemianopia (with macula sparing)

 cortical blindness
 visual agnosia

Temporal lobe lesion

 Wernicke's aphasia: this area 'forms' the speech before 'sending it'
to Brocas area. Lesions result in word substituion, neologisms but
speech remains fluent
 superior homonymous quadrantanopia
 auditory agnosia
 prosopagnosia (difficulty recognising faces)

Frontal lobes lesions

 expressive (Broca's) aphasia: located on the posterior aspect of the

frontal lobe, in the inferior frontal gyrus. Speech is non-fluent,
laboured, and halting
 disinhibition
 perseveration
 anosmia
 inability to generate a list
Cerebellum lesions

 midline lesions: gait and truncal ataxia

 hemisphere lesions: intention tremor, past pointing,
dysdiadokinesis, nystagmus

More specific areas

Area Associated conditions

Medial thalamus and mammillary bodies of the
Wernicke and Korsakoff syndrome
hypothalamus
Subthalamic nucleus of the basal ganglia Hemiballism
Striatum (caudate nucleus) of the basal ganglia Huntington chorea
Substantia nigra of the basal ganglia Parkinson's disease
Kluver-Bucy syndrome (hypersexuality, hyperorality,
Amygdala
hyperphagia, visual agnosia

Neuroleptic malignant syndrome

Neuroleptic malignant syndrome is a rare but dangerous condition seen in

patients taking antipsychotic medication. It carries a mortality of up to
10% and can also occur with atypical antipsychotics. It may also occur
with dopaminergic drugs (such as levodopa) for Parkinson's disease,
usually when the drug is suddenly stopped or the dose reduced.

The pathophysiology is unknown but one theory is that the dopamine

blockade induced by antipsychotics triggers massive glutamate release
and subsequent neurotoxicity and muscle damage.

It occurs within hours to days of starting an antipsychotic (antipsychotics

are also known as neuroleptics, hence the name) and the typical
features are:

 pyrexia
 muscle rigidity
 autonomic lability: typical features include hypertension,
tachycardia and tachypnoea
 agitated delirium with confusion

A raised creatine kinase is present in most cases. Acute kidney

injury (secondary to rhabdomyolysis) may develop in severe cases.
A leukocytosis may also be seen

Management

 stop antipsychotic
 patients should be transferred to a medical ward if they are on a
psychiatric ward and often they are nursed in intensive care units
 IV fluids to prevent renal failure
 dantrolene may be useful in selected cases
o thought to work by decreasing excitation-contraction coupling
in skeletal muscle by binding to the ryanodine receptor, and
decreasing the release of calcium from the sarcoplasmic
reticulum
 bromocriptine, dopamine agonist, may also be used

Venn diagram showing contrasting serotonin syndrome with neuroleptic malignant

syndrome. Note that both conditions can cause a raised creatine kinase (CK) but it tends
to be more associated with NMS.