Neurology Flashcards
What is meant by syncope?
Syncope is the term used to describe the event of temporarily losing consciousness due to a disruption of blood flow to the brain, often leading to a fall. Syncopal episodes are also known as vasovagal episodes, or simply fainting.
What happens in a vasovagal episode?
Strong stimulus to vagus nerve (emotional event, pain, change in temperature)
Stimulation of the parasympathetic nervous system, counteracting the sympathetic nervous system
Smooth muscle in blood pressure relax including those delivering blood to the brain
Cerebral circulation blood pressure drops
Hypoperfusion of the brain tissue, this causes the patient to lose consciousness and ‘faint’
Patients often remember the event and can recall how they felt prior to fainting. This is called the prodrome, and involves feeling how?
Hot or clammy
Sweaty
Heavy
Dizzy or lightheaded
Vision going blurry or dark
Headache
A collateral history from someone that witnessed a syncope is essential to get an accurate impression of what happened. During a vasovagal episode they may describe the person how?
Suddenly losing consciousness and falling to the ground
Unconscious on the ground for a few seconds to a minute as blood returns to their brain
There may be some twitching, shaking or convulsion activity, which can be confused with a seizure
Seizure vs syncope - after the episode
The patient may be a bit groggy following a faint, however this is different from the postictal period that follows a seizure.
Postictal patients have a prolonged period of confusion, drowsiness, irritability and disorientation.
There may be incontinence with both seizures and syncopal episodes
Primary syncope causes
Dehydration
Missed meals
Extended standing in a warm environment, such as a school assembly
A vasovagal response to a stimuli, such as sudden surprise, pain or the sight of blood
Secondary causes of syncope?
Hypoglycaemia
Dehydration
Anaemia
Infection
Anaphylaxis
Arrhythmias
Valvular heart disease
Hypertrophic obstructive cardiomyopathy
Key points to focus on during history of a syncopal episode?
Features that distinguish a syncopal episode from a seizure
After exercise? Syncope after exercise is more likely to be secondary to an underlying condition.
Triggers?
Concurrent illness? Do they have a fever or signs of infection?
Injury secondary to the faint? Do they have a head injury?
Associated cardiac symptoms, such as palpitations or chest pain?
Associated neurological symptoms?
Seizure activity?
Family history, particularly cardiac problems or sudden death?
Syncope vs seziure - pre episode
Syncope: prolonged upright posture, lightheaded, sweatting, blurring or clouding of vision
Seziure: aura (smells, tastes, deja vu)
Syncope vs seizure - during the event
Syncope: reduced tone during the episode, return of conicouness shortly after fall
Seziure: tonic clonic activity, head turning or abnormal limb positions, tongue biting, cyanosis, lasts more than five mins
?syncope key points to elicit on examination
Are there any physical injuries as a result of the faint, for example a head injury?
Is there a concurrent illness, for example an infection or gastroenteritis?
Neurological examination
Cardiac examination, specifically assessing pulses, heart rate, rhythm and murmurs
Lying and standing blood pressure
?syncope investigations
ECG, particularly assessing for arrhythmia and the QT interval for long QT syndrome
24 hour ECG if paroxysmal arrhythmias are suspected
Echocardiogram if structural heart disease is suspected
Bloods, including a full blood count (anaemia), electrolytes (arrhythmias and seizures) and blood glucose (diabetes)
Management of fainting in children
Fainting is common in children, particularly in teenage girls. They usually resolve by the time they reach adulthood. The most important aspect of management is making a confident diagnosis and excluding other pathology.
Seizures or underlying pathology need to be managed by an appropriate specialist.
Once a simple vasovagal episode is diagnosed, reassurance and simple advice can be given to:
Avoid dehydration
Avoid missing meals
Avoid standing still for long periods
When experiencing prodromal symptoms such as sweating and dizziness, sit or lie down, have some water or something to eat and wait until feeling better
What is epilepsy?
Epilepsy is an umbrella term for a condition where there is a tendency to have seizures - transient episodes of abnormal electrical activity in the brain.
Features of Generalised Tonic-Clonic Seizures
These are what most people think of with an epileptic seizure. There is loss of consciousness and tonic (muscle tensing) and clonic (muscle jerking) movements. Typically the tonic phase comes before the clonic phase. There may be associated tongue biting, incontinence, groaning and irregular breathing.
After the seizure there is a prolonged post-ictal period where the person is confused, drowsy and feels irritable or low.
Management of tonic-clonic seizures?
First line: sodium valproate
Second line: lamotrigine or carbamazepine
Features of focal seizures
Focal seizures start in the temporal lobes. They affect hearing, speech, memory and emotions. There are various ways that focal seizures can present:
Hallucinations
Memory flashbacks
Déjà vu
Doing strange things on autopilot
Where do focal seziures start?
Temporal lobes
Focal seizure management
One way to remember the treatment is that the choice of medication is the reverse of tonic-clonic seizures:
First line: carbamazepine or lamotrigine
Second line: sodium valproate or levetiracetam
What do absence seizures look like?
The patient becomes blank, stares into space and then abruptly returns to normal.
During the episode they are unaware of their surroundings and won’t respond.
These typically only lasts 10 to 20 seconds
Which patients are typically affected by absence seizures?
Children
More than 90% of these patients will stop having them as they get older
Management of absence seizures
First line: sodium valproate or ethosuximide
How are atonic seizures characterised?
Brief lapses in muscle tone
They usually last more than 3 minutes
Atonic seizures/drop attacks typically begin in childhood. What might they be indicative of?
Lennox-Gastaut syndrome
How are atonic seizures managed?
First line: sodium valproate
Second line: lamotrigine
How are myoclonic seizures managed
First line: sodium valproate
Other options: lamotrigine, levetiracetam or topiramate
How are myoclonic seizures characterised?
Myoclonic seizures present as sudden brief muscle contractions, like a sudden “jump”. The patient usually remains awake during the episode.
Myoclonic seizures occur in various forms of epilepsy but typically happen in children as part of what?
juvenile myoclonic epilepsy
What is also known as West syndrome?
Infantile spasms
When does West syndrome start?
In infancy, around 6 months of age
What is West syndrome characterised by?
Clusters of full body spasms
Infantile spasms/West syndrome prognosis
There is a poor prognosis: 1/3 die by age 25, however 1/3 are seizure free. It can be difficult to treat but first line treatments are:
What are febrile convulsions
Febrile convulsions are seizures that occur in children whilst they have a fever. They are not caused by epilepsy or other underlying neurological pathology (such as meningitis or tumours).
By definition, febrile convulsions occur only in children of what ages?
between the ages of 6 months and 5 years
Consequences/prognosis of febrile convulsions
Febrile convulsions do not usually cause any lasting damage.
One in three will have another febrile convulsion.
Having febrile convulsions slightly increases the risk of developing epilepsy in the future.
Do all children with ?seizures require investigation?
A good history is the key to a diagnosis of epilepsy. It is important to establish that any episodes were seizures, as opposed to vasovagal episodes or febrile convulsions.
Try to identify the type of seizure. Patients with a clear history of a febrile convulsion or vasovagal episode do not require further investigations.
Children are allowed one simple seizure before being investigated for epilepsy.
When should an EEG be performed on children?
An electroencephalogram (EEG) can show typical patterns in different forms of epilepsy and support the diagnosis.
Perform an EEG after the second simple tonic-clonic seizure.
When should an MRI brain be performed in children with seizures
An MRI brain can be used to visualise the structure of the brain. It is used to diagnose structural problems that may be associated with seizures and other pathology such as tumours. It should be considered when:
The first seizure is in children under 2 years
Focal seizures
There is no response to first line anti-epileptic medications
Additional investigations can be considered to exclude other pathology that may cause seizures
ECG to exclude problems in the heart.
Blood electrolytes including sodium, potassium, calcium and magnesium
Blood glucose for hypoglycaemia and diabetes
Blood cultures, urine cultures and lumbar puncture where sepsis, encephalitis or meningitis is suspected
Patients and families presenting with seizures need to be given advice about safety precautions, recognising, managing and reporting further seizures. It is important to avoid situations where a seizure may put the child in danger, what advise can be given?
Take showers rather than baths
Be very cautious with swimming unless seizures are well controlled and they are closely supervised
Be cautious with heights
Be cautious with traffic
Be cautious with any heavy, hot or electrical equipment
Older teenagers with epilepsy will need to avoid driving unless they meet specific criteria regarding control of their epilepsy
Action of sodium valproate in epilepsy?
It works by increasing the activity of GABA, which has a relaxing effect on the brain.
Sodium valproate is a first line option for most forms of epilepsy except for what?
Focal seizures
Notable side effects of sodium valporate?
Teratogenic, so patients need careful advice about contraception
Liver damage and hepatitis
Hair loss
Tremor
There are a lot of warning about the teratogenic effects of sodium valproate and NICE updated their guidelines in 2018 to reflect this how?
It must be avoided in girls unless there are no suitable alternatives and strict criteria are met to ensure they do not get pregnant.
Carbamazepine is the first line therapy for what?
focal seizures
Notable side effects of carbamazepine
Agranulocytosis
Aplastic anaemia
Induces the P450 system so there are many drug interactions
Phenytoin notable side effects
Folate and vitamin D deficiency
Megaloblastic anaemia (folate deficiency)
Osteomalacia (vitamin D deficiency)
Two notable side effects of ethosuximide?
Night terrors
Rashes
Two notable side effects of lamotrigine?
Stevens-Johnson syndrome or DRESS syndrome. These are life threatening skin rashes.
Leukopenia
Immediate management of a seizure?
Put the patient in a safe position (e.g. on a carpeted floor)
Place in the recovery position if possible
Put something soft under their head to protect against head injury
Remove obstacles that could lead to injury
Make a note of the time at the start and end of the seizure
Call an ambulance if lasting more than 5 minutes or this is their first seizure.
What is status epilepticus?
It is defined as a seizure lasting more than 5 minutes or 2 or more seizures without regaining consciousness in the interim.
Management of status epileptics in the hospital
Secure the airway
Give high-concentration oxygen
Assess cardiac and respiratory function
Check blood glucose levels
Gain intravenous access (insert a cannula)
IV lorazepam, repeated after 10 minutes if the seizure continues
If the seizures persist the final step is an infusion of IV phenobarbital or phenytoin. At this point intubation and ventilation to secure the airway needs to be considered, along with transfer to the intensive care unit if appropriate.
For managing status epilepticus in the community
Buccal midazolam
Rectal diazepam
What are simple febrile convulsions?
Simple febrile convulsions are generalised, tonic clonic seizures. They last less than 15 minutes and only occur once during a single febrile illness.
What are complex febrile convulsions?
Febrile convulsions can be described as complex when they consist of partial or focal seizures, last more than 15 minutes or occur multiple times during the same febrile illness.
Febrile convulsion - differntials
Epilepsy
Meningitis, encephalitis or another neurological infection such as cerebral malaria
Intracranial space occupying lesions, for example brain tumours or intracranial haemorrhage
Syncopal episode
Electrolyte abnormalities
Trauma (always think about non accidental injury)
Diagnosing febrile convulsions
In order the make a diagnosis of a febrile convulsion, other neurological pathology must be excluded.
Typical presentation of febrile convulsions
A typical presentation is a child around 18 months of age presenting with a 2 – 5 minute tonic clonic seizure during a high fever.
The fever is usually caused by an underlying viral illness or bacterial infection such as tonsillitis.
What should be done following the diagnosis of a febrile convulsion?
Once a diagnosis of a febrile convulsion has been made, look for the underlying source of infection.
What advice should you parents advice on managing a seizure if a further episode occurs following a febrile convulsion?
Stay with the child
Put the child in a safe place, for example on a carpeted floor with a pillow under their head
Place them in the recovery position and away from potential sources of injury
Don’t put anything in their mouth
Call an ambulance if the seizure lasts more than 5 minutes
The first seizure should always result in a trip to hospital for assessment, however if parents are confident in subsequent events and can safely manage the child at home then they can visit their GP at the next available opportunity.
Risk of developing epilepsy following a febrile convulsion?
1.8% for the general population
2-7.5% after a simple febrile convulsion
10-20% after a complex febrile convulsion
What are breath holding spells?
Breath holding spells are also known as breath holding attacks. They are involuntary episodes during which a child holds their breath, usually triggered by something upsetting or scaring them.
Between what ages do breath holding spells typically occur?
6 and 18 months of age
What to reassure parents about breatholding spells
Child cannot control it - not deliberate
Not harmful in long term
Do not lead to epilepsy
Most children outgrowth them by 4 or 5 years
What are the two types of breath holding spells?
cyanotic breath holding spells
pallid breath holding spells (also known as reflex anoxic seizures).
What are cyanotic breath holding spells?
Cyanotic breath holding spells occur when the child is really upset, worked up and crying. After letting out a long cry they stop breathing, become cyanotic and lose consciousness. Within a minute they regain consciousness and start breathing. They can be a bit tired and lethargic after an episode.
What are reflex anoxic seziures?
Reflex anoxic seizures occur when the child is startled.
The vagus nerve sends strong signals to the heart that causes it to stop beating. The child will suddenly go pale, lose consciousness and may start to have some seizure-like muscle twitching.
Within 30 seconds the heart restarts and the child becomes conscious again.
Management of breath holding spells
After excluding other pathology and making a diagnosis, educating and reassuring parents about breath holding spells is the key to management.
Breath holding spells have been linked with iron deficiency anaemia. Treating the child if they are iron deficiency anaemic can help minimise further episodes.
Causes of headaches in children?
Tension headaches
Migraines
Ear, nose and throat infection
Analgesic headache
Problems with vision
Raised intracranial pressure
Brain tumours
Meningitis
Encephalitis
Carbon monoxide poisoning
How do tension headaches present in children?
Tension headaches are very common.
Classically they produce a mild ache across the forehead and pain or pressure in a band-like pattern around the head.
Tension headaches comes on and resolve gradually and don’t produce visual changes or pulsating sensations.
They are typically symmetrical.
Symptoms may be very non-specific in younger children.
They may become quiet, stop playing, turn pale or become tired.
They tend to resolve more quickly in children compared with adults, often within 30 minutes.
Specific triggers for tension headaches in children
Stress, fear or discomfort
Skipping meals
Dehydration
Infection
Management of tension headache
Management is with reassurance, analgesia, regular meals, avoiding dehydration and reducing stress.
Types of migraine
Migraine without aura
Migraine with aura
Silent migraine (migraine with aura but without a headache)
Hemiplegic migraine
Abdominal migraine
What complex neurological condition causes headaches and other associated symptoms occurring in ‘‘attacks’’ following a typical pattern?
Migraine
Characteristic of migraine headaches
Unilateral
More severe
Throbbing in nature
Take longer to resolve
Migraine associated symptoms
Visual aura
Photophobia and phonophobia
Nausea and vomiting
Abdominal pain
Acute management of migraines in children?
Rest, fluids and low stimulus environment
Paracetamol
Ibuprofen
Sumatriptan
Antiemetics, such as domperidone (unless contraindicated)
Where the migraines are having a significant impact on life, for example frequent attacks or missing school, prophylactic treatment can be tried to reduce the frequency and severity of the migraines. This is usually guided by a specialist. Options for migraine prophylaxis include what?
Propranolol (avoid in asthma)
Pizotifen (often causes drowsiness)
Topiramate (girls with child bearing potential need highly effective contraception as it is very teratogenic).
What type of migraine are children more likely to be affected by than adults?
Abdominal
What might young children experience prior to developing traditional migraines as they get older?
Abdominal migraines
When a patient presents with possible migraines ask about recurrent central abdominal pain as a child. They may have a history of abdominal migraine that started before the headaches.
Features of abdominal migraine
They present with episodes of central abdominal pain lasting more than 1 hour.
Examination will be normal.
There may be associated:
Nausea and vomiting
Anorexia
Headache
Pallor
Infections can cause headaches in children. In a child with a new headache, always check for symptoms and signs of which conditions?
Viral URTI
Otitis media
Sinusitis
Tonsillitis
Features of sinusitis headaches?
Sinusitis causes a headache associated with inflammation in the ethmoidal, maxillary, frontal or sphenoidal sinuses.
This usually produces facial pain behind the nose, forehead and eyes.
There is often tenderness over the effected sinuses, which helps to establish the diagnosis.
Sinusitis usually resolves within 2 – 3 weeks.
Most sinusitis is viral.
Management of infection associated headache in children
The headache should resolve along with the infection. Paracetamol and ibuprofen can be helpful for symptomatic relief.
What is cerebral palsy?
Cerebral palsy (CP) is the name given to the permanent neurological problems resulting from damage to the brain around the time of birth.
There is huge variation in the severity and type of symptoms, ranging from completely wheelchair bound and dependent on others for all activities of daily living, to para-olympic athletes with only subtle problems with coordination or mobility.
Causes of cerebral palsy
Antenatal:
Maternal infections
Trauma during pregnancy
Perinatal:
Birth asphyxia
Pre-term birth
Postnatal:
Meningitis
Severe neonatal jaundice
Head injury
Antenatal causes of CP
Maternal infections
Trauma during prgenancy
Perinatal causes of CP
Birth asphyxia
Pre-term birth
Postnatal causes of CP
Meningitis
Severe neonatal jaundice
Head injury
Type of Cerebral Palsy
Spastic
Dyskinetic
Ataxic
Mixed
What is spastic CP
Hypertonia
Reduced function
Results from damage to upper motor neurons
What is dyskinetic CP
Problems controling muscle tone
Both hypertonia and hypotonia, causing athetoid movements and oro-motor problems
Result of damage to the basal ganglia
What is ataxic CP
Problems with coordinated movement
Results from damage to the cerebellum
What type of CP results from UMN damage
Spastic
What type of CP results in damage to the basal ganglia
Dyskinetic
What type of CP results from damage to the cerebellum
Ataxic
Spastic CP is also known as what?
Pyramidal CP
Dyskinetic CP is also known as what?
Athetoid CP and extrapyramidal CP
Patterns of Spastic Cerebral Palsy
Monoplegia: one limb affected
Hemiplegia: one side of the body affected
Diplegia: four limbs are affects, but mostly the legs
Quadriplegia: four limbs are affected more severely, often with seizures, speech
disturbance and other impairments
Presentation of CP
It is difficult to predict the extent of cerebral palsy or even whether it will occur based on the events in the peri-natal period.
Children at risk of developing cerebral palsy, such as those with hypoxic-ischaemic encephalopathy, need to be followed up to identify any signs and symptoms that develop.
Signs and symptoms of cerebral palsy will become more evident during development, such as what?
Failure to meet milestones
Increased or decreased tone, generally or in specific limbs
Hand preference below 18 months is a key sign to remember for exams
Problems with coordination, speech or walking
Feeding or swallowing problems
Learning difficulties
You can gain a lot of information about a child from their gait:
Hemiplegic / diplegic gait: indicates an upper motor neurone lesion
Broad based gait / ataxic gait: indicates a cerebellar lesion
High stepping gait: indicates foot drop or a lower motor neurone lesion
Waddling gait: indicates pelvic muscle weakness due to myopathy
Antalgic gait (limp): indicates localised pain
Muscle bulk preservation - UMN vs LMN
UMN - preserved
LMN - reduced muscle bulk with fasciculations
Tone in UMN and LMN
Hypertonia - UMN
Hypotonia - LMN
Power UMN - LMN
UMN
Slightly reduced
LMN
Dramatically reduced
Reflexes UMN vs LMN
UMN
Brisk
LMN
Reduced
What gait may be present in CP and why
Patients with cerebral palsy may have a hemiplegic or diplegic gait.
This gait is caused by increased muscle tone and spasticity in the legs.
The leg will be extended with plantar flexion of the feet and toes.
This means they have to swing the leg around in a large semicircle when moving their leg from behind them to in front.
There is not enough space to swing the extended leg in a straight line below them.
Neurological signs in CP
They will have signs of an upper motor neurone lesion, with good muscle bulk, increased tone, brisk reflexes and slightly reduced power.
Power may be normal.
Look for athetoid movements that indicate extrapyramidal (basal ganglia) involvement. Test for coordination to look for cerebellar involvement.
Gait may be hemiplegic or diplegic
CP - complications and associated conditions
Learning disability
Epilepsy
Kyphoscoliosis
Muscle contractures
Hearing and visual impairment
Gastro-oesophageal reflux
MDT approach to management of CP
Physiotherapy is used to stretch and strengthen muscles, maximise function and prevent muscle contractures.
Occupational therapy is used to help patients manage their everyday activities, such as getting dressed and using the bathroom. That can involve techniques to perform tasks despite disability. They can also make adaptations and supply equipment, such as rails for assistance or fitting a hoist for a patient who is entirely wheelchair bound.
Speech and language therapy can help with speech and swallowing. When swallowing difficultly prevents them meeting their nutritional requirements they may require an NG tube or PEG tube to be fitted.
Dieticians can help ensure they meet nutritional requirements. Some children may require PEG feeding through a port on their abdomen that gives direct access to the stomach.
Orthopaedic surgeons can perform procedures to release contractures or lengthen tendons (tenotomy).
Paediatricians will regularly see the child to optimise their medications. This may involve:
Muscle relaxants (e.g. baclofen) for muscle spasticity and contractures
Anti-epileptic drugs for seizures
Glycopyrronium bromide for excessive drooling
Social workers to help with benefits and support.
Charities and support groups provide opportunities to connect with others affected by cerebral palsy and learn and share information on the condition.
What is meant by squint and how does it affect vision?
Squint refers to misalignment of the eyes. It is is also known as strabismus. When the eyes are not aligned, the images on the retina do not match and the person will experience double vision.
Why is strabismus a more important issue in children
When this occurs in childhood, before the eyes have fully established their connections with the brain, the brain will cope with this misalignment by reducing the signal from the less dominant eye.
This results in one eye they use to see (the dominant eye) and one eye they ignore (the “lazy eye”).
If this is not treated, this “lazy eye” becomes progressively more disconnected from the brain and over time the problem becomes worse. This is called amblyopia.
What is a concomitant squint
Concomitant squints are due to differences in the control of the extra ocular muscles. The severity of the squint can vary.
What is a paralytic squint
Rare
Occurs due to paralysis in one or more of the extra ocular muscles
Stabismus
Eyes are misaligned
Ambylopia
The affected eye becomes passive and has reduced function compared to the other dominant eye
Esotropia
Inward positioned squint (affected eye towards the nose)
Exotropia
outward positioned squint (affected eye towards the ear)
Hypertropia
Upward moving affected eye
Hypotropia
Downward moving affected eye
Causes of strabismus (squint)
Idiopathic (most common)
Hydrocephalus
Cerebral palsy
Space occupying lesions, for example retinoblastoma
Trauma
Examination of ?strabismus
General inspection
Eye movements
Fundoscopy (or red reflex) to rule out retinoblastoma, cataracts and other retinal pathology
Visual acuity
Hirschberg’s test
Cover test
Hirschberg’s test
Shine a pen-torch at the patient from 1 meter away.
When they look at it, observe the reflection of the light source on their cornea.
The reflection should be central and symmetrical.
Deviation from the centre will indicate a squint.
Make a note of the affected eye and the direction the eye deviates.
Cover test
Cover one eye and ask the patient to focus on an object in front of them.
Move the cover across to the opposite eye and watch the movement of the previously covered eye.
If this eye moves inwards, it had drifted outwards when covered (exotropia) and if it moves outwards it means it had drifted inwards when covered (esotropia).
Management of stabismus
Up until the age of 8 years the visual fields are still developing, therefore treatment needs to start before 8 years. The earlier the better. Delayed treatment increases the risk of the squint becoming permanent.
An occlusive patch can be used to cover the good eye and force the weaker eye to develop. An alternative to the patch may involve using atropine drops in the good eye, causing vision in that eye to be blurred.
Management is coordinated by an ophthalmologist. It will be important to treat any underlying pathology, such as cataracts. Refractive errors can be corrected with corrective lenses.
Before what age does treatment of squint need to start
8 years
Up to what age are visual fields still developing
8 years
What is hydrocephalus?
Hydrocephalus describes cerebrospinal fluid (CSF) building up abnormally within the brain and spinal cord.
This is a result of either over-production of CSF or a problem with draining or absorbing CSF.
Basic CSF physiology (normal)
There are four ventricles in the brain: two lateral ventricles, the third and the fourth ventricles.
The ventricles containing CSF.
The CSF provides a cushion for the brain tissue.
CSF is created in the four choroid plexuses (one in each ventricle) and by the walls of the ventricles.
CSF is absorbed into the venous system by the arachnoid granulations.
What is the most common cause oF hydrocephalus?
Congenital aqueductal stenosis, leading to insufficiency in the drainage of CSF
How does aqueductal setnosis cause hydrocephelus?
The cerebral aqueduct that connects the third and fourth ventricle is stenosed (narrowed).
This blocks the normal flow of CSF out of the third ventricle, causing CSF to build up in the lateral and third ventricles.
Causes of hydrocephalus
Aqueductal stenosis (congenital)
Arachnoid cysts can block the outflow of CSF if they are large enough
Arnold-Chiari malformation is where the cerebellum herniates downwards through the foramen magnum, blocking the outflow of CSF
Chromosomal abnormalities and congenital malformations can cause obstruction to CSF drainage.
Hydrocephellus is very obvious in babies - why?
The cranial bones in babies are not fused at the sutures until around 2 years of age.
Therefore, the skull is able to expand to fit the cranial contents.
When a baby has hydrocephalus it causes outward pressure on the cranial bones.
Therefore, babies with hydrocephalus will have an enlarged and rapidly increasing head circumference (occipito-frontal circumference).
Signs of hydrocephalus
Enlarged and rapidly increasing head circumference
Bulging anterior fontanelle
Poor feeding and vomiting
Poor tone
Sleepiness
Mainstay of treatment of hydrocephalus
Placing a VP shunt that drains CSF from the ventricles into another body cavity is the mainstay of treatment for hydrocephalus.
Ventriculoperitoneal Shunt
Ventriculoperitoneal Shunt drains CSF from ventricles into the peritoneal cavity, where it is reabsrobed via a small catheter placed at the back of the skull by a surgeon which is placed through a small hole in the skull and into one of the ventricles.
A valve on the end of this tube is placed subcutaneously, and a catheter on the other side of the valve runs under the skin into the peritoneal cavity.
This valve helps to regulate the amount of CSF that drains from the ventricles.
VP Shunt Complications
Infection
Blockage
Excessive drainage
Intraventricular haemorrhage during shunt related surgery
Outgrowing them (they typically need replacing around every 2 years as the child grows)
What is craniosynostosis
Craniosynostosis occurs when the skull sutures close prematurely. This results in abnormal head shapes and restriction to the growth of the brain.
What will craniosynostosis lead to if left untreated
Raised ICP, with resulting symptoms of:
Developmental delay
Cognitive impairment
Vomiting
Visual impairment
Neurological symptoms
Seziures
Craniosynostosis presentation
The main presenting features is an abnormal head shape depending, on the affected cranial suture
Anterior fontanelle closure before 1 year of age
Small head in proportion to the body
Where there are suspicions about craniosynostosis the patient should be referred to a specialist for further investigations, such as what?
The first line investigation is a skull xray.
CT head with bone views is used to confirm the diagnosis or exclude it if there is doubt on the xray.
Management of craniosynostosis + prognosis?
Mild cases may be monitored and followed up over time. More severe cases require surgery for surgical reconstruction of the skull.
The prognosis is usually good with proper management. They will have a lifelong scar on the scalp where the surgery was performed.
Saggittal Synostosis
Saggital suture
Long and narrow from front to back
Coronal Synostosis
Coronal suture
Bulging on one side of the forehead
Metopic Synostosis
Metopic suture
Pointy triangular forehead
Lambdoid Synostosis
Lambdoid suture
Flattening on one side of the occiput
What is plagiocephaly
Common condition of abnormal head shape in otherwise normal health babies
Plagiocephaly refers to flattening of one area of the baby’s head.
What is brachycephaly?
Common condition of abnormal head shape in otherwise normal health babies
Brachycephaly refers to flattening at the back of the head, resulting in a short head from back to front.
What is positional plagiocephaly?
Plagiocephaly and brachycephaly occur where a baby had a tendency to rest their head on a particular point, resulting in the skull bones and sutures moulding with gravity to create an abnormal head shape.
Why has positional plagiocephaly become more common?
This has become more common as parents are advised to rest babies on their back to reduce the risk of sudden infant death syndrome.
Presentation of plagiocephaly/brachycephaly
The typical presentation is a baby aged 3 – 6 months with an abnormal head shape. They often have a history of preferring to sleep on one side of their head.
How can you exclude craniosynotosis in suspected plagiocephaly and brachycephaly?
Exclude craniosynotosis with a thorough history and properly palpating the sutures. Where there is doubt refer for specialist assessment and imaging.
What should you look for when a baby presents with abnormal headshape?
Exclude craniosynotosis with a thorough history and properly palpating the sutures. Where there is doubt refer for specialist assessment and imaging.
Look for congenital muscular torticollis (CMT), which is a shortening of the sternocleidomastoid muscle on one side. This may be the reason the child always rests on one side of their head.
Management of congenital muscular torticollis?
Physiotherapy can help with movement exercises to treat the torticollis.
What is congenital muscular torticollis
Congenital muscular torticollis (CMT) is a shortening of the sternocleidomastoid muscle on one side.
This may be the reason the child always rests on one side of their head.
Physiotherapy can help with movement exercises to treat torticollis if present
Reassurance (once craniosynostosis ruled out) - most cases head shape will return to normal as child grows
Simple measures can be taken to encourage the baby to avoid resting on the flattened area:
- Positioning them on the rounded side for sleep
- Supervised tummy time
- Using rolled towels or other props
- Minimising time in pushchairs and car seats
Plagiocephaly helmets are marketed as a treatment option for plagiocephaly. They have some limitations in that they need to be used for the vast majority of the day and can lead to skin problems (e.g. contact dermatitis) and psychosocial problems. They are not routinely available on the NHS.
What is muscular dystrophy?
Muscular dystrophy is an umbrella term for genetic conditions that cause gradual weakening and wasting of muscles.
Most common muscular dystrophy in peadiatrics?
Duchennes muscular dystrophy
Types of muscual dystrophy
Duchennes muscular dystrophy
Beckers muscular dystrophy
Myotonic dystrophy
Facioscapulohumeral muscular dystrophy
Oculopharyngeal muscular dystrophy
Limb-girdle muscular dystrophy
Emery-Dreifuss muscular dystrophy
What is Gower’s sign?
Children with proximal muscle weakness use a specific technique to stand up from a lying position. This is called Gower’s sign.
To stand up, they get onto their hands and knees, then push their hips up and backwards like the “downward dog” yoga pose. They then shift their weight backwards and transfer their hands to their knees. Whilst keeping their legs mostly straight they walk their hands up their legs to get their upper body erect. This is because the muscles around the pelvis are not strong enough to get their upper body erect without the help of their arms.
What is the underlying genetic inheritance and cause of Duchennes muscular dystrophy?
X-linked recessive
It is caused by a defective gene for dystrophin on the X-chromosome. Dystrophin is a protein that helps hold muscles together at the cellular level.
Management of muscular dystrophy?
There is no curative treatment for muscular dystrophy.
Management is aimed at allowing the person to have the highest quality of life for the longest time possible. This usually involves input from occupational therapy, physiotherapy and medical appliances (such as wheelchairs and braces) as well as surgical and medical management of complications such as spinal scoliosis and heart failure.
Oral steroids have been shown to slow the progression of muscle weakness by as much as two years in Duchennes
Creatine supplementation can give a slight improvement in muscle strength.
Genetic trials are ongoing.
Duchennes Muscular Dystrophy: Mothers carrying the defective gene for dystrophin on the X-chromosome
If a mother is a carrier (meaning she has one faulty gene) and she has a child, that child will have a 50% change of being a carrier if they female and 50% change of having the condition if they are male.
Duchennes Muscular Dystrophy: course of disease
Boys with Duchennes present around 3 – 5 years with weakness in the muscles around their pelvis.
The weakness tends to be progressive and eventually all muscles will be affected.
They are usually wheelchair bound by the time they become a teenager.
They have a life expectance of around 25 – 35 years with good management of the cardiac and respiratory complications.
How and when does Duchennes Muscular Dystrophy tend to present?
Boys with Duchennes present around 3 – 5 years with weakness in the muscles around their pelvis.
How does Beckers Muscular dystrophy differ from Duchennes
Beckers muscular dystrophy is very similar to Duchennes, however the dystrophin gene is less severely affected and maintains some of its function.
The clinical course is less predictable than Duchennes.
Symptoms only start to appear around 8 – 12 years.
Some patient require wheelchairs in their late 20s or 30s .
Others able to walk with assistance into later adulthood.
When does myotonic dystrophy typically present?
Adulthood (it is still a genetic disorder)
Features of myotonic dystrophy
Progressive muscle weakness
Prolonged muscle contractions
Cataracts
Cardiac arrhythmias
(Presents in adulthood)
Prolonged muscle contractions is a key features of myotonic dystrophy - how might it present
This may present iwith a patient that is unable to let go after shaking someones hand, or unable to release their grip on a doorknob after opening a door.
When doing an upper limb neurological examination always shake the patients hand and observe for difficulty releasing their grip.
Facioscapulohumeral muscular dystrophy presentation
Facioscapulohumeral muscular dystrophy usually presents in childhood with weakness around the face, progressing to the shoulders and arms.
A classic initial symptom is sleeping with their eyes slightly open and weakness in pursing their lips.
They are unable to blow their cheeks out without air leaking from their mouth.
Oculopharyngeal muscular dystrophy presentation
Oculopharyngeal muscular dystrophy usually presents in late adulthood with weakness of the ocular muscles (around the eyes) and pharynx (around the throat) as the name suggests.
It typically presents with bilateral ptosis, restricted eye movement and swallowing problems.
Muscles around the limb girdles are also affected to varying degrees.
Limb-girdle muscular dystrophy presentation
Limb-girdle muscular dystrophy usually presents in teenage years with progressive weakness around the limb girdles (hips and shoulders).
Emery-Dreifuss muscular dystrophy presentation
Emery-Dreifuss muscular dystrophy usually presents in childhood with contractures, most commonly in the elbows and ankles. Contractures are shortening of muscles and tendons that restrict the range of movement in limbs. Patients also suffer with progressive weakness and wasting of muscles, starting with the upper arms and lower legs.
Muscular dystrophies that present before adulthood
Duchennes Muscular Dystrophy (3-5 years)
Beckers Muscular Dystrophy (8-12 years)
Facioscapulohumeral Muscular Dystrophy
Limb-girdle muscular dystrophy (teenagers)
Emery-Dreifuss muscular dystrophy
What is spinal muscular atrophy (
Spinal muscular atrophy (SMA) is a rare autosomal recessive condition that causes a progressive loss of motor neurones, leading to progressive muscular weakness.
Spinal muscular atrophy affects the lower motor neurones in the spinal cord.
This means there will be lower motor neurone signs, such as fasciculations, reduced muscle bulk, reduced tone, reduced power and reduced or absent reflexes.
What motor neurone signs are seen in SMA?
Spinal muscular atrophy affects the lower motor neurones in the spinal cord.
This means there will be lower motor neurone signs, such as fasciculations, reduced muscle bulk, reduced tone, reduced power and reduced or absent reflexes.
What is the most common type of SMA?
2
SMA type 1: onset and prognosis
SMA type 1 has an onset in the first few months of life, usually progressing to death within 2 years.
SMA type 2 onset an prognosis
SMA type 2 has an onset within the first 18 months. Most never walk, but survive into adulthood.
SMA type 3 onset and prognosis
SMA type 3 has an onset after the first year of life.
Most walk without support, but subsequently loose that ability.
Respiratory muscles are less affected and life expectancy is close to normal.
SMA type 4 onset and prognosis
SMA type 4 has an onset in the 20s.
Most will retain the ability to walk short distances but require a wheelchair for mobility.
Everyday tasks can lead to significant fatigue.
Respiratory muscles and life expectancy are not affected.
Management of spinal muscular atrophy
There is no cure for spinal muscular atrophy. Management is supportive and involves the multi-disciplinary team.
Physiotherapy can be helpful in maximising strength in the muscles and retaining respiratory function.
Splints, braces and wheelchairs can be used to maximise function.
Respiratory support with non-invasive ventilation may be required to prevent hypoventilation and respiratory failure, particularly during sleep.
Children with SMA type 1 may require a tracheostomy with mechanical ventilation, which can dramatically extend life by supporting failing respiratory muscles.
Percutaneous endoscopic gastrostomy (PEG) feeding may be required when a weak swallow makes swallowing unsafe.
What does hypsarrhythmia on EEG suggest?
Hypsarrhythmia on EEG suggests infantile spasms (West’s syndrome)
Specialists may consider prescribing benzodiazepine rescue medication for recurrent febrile seizures - for example what?
rectal diazepam or buccal midazolam
What type of SOL is more common in children and what signs might you expect subsequently
Posterior fossa, cerebellar signs
EEG - 3 hz spike and wave
Absence seizure
EEG: hypsarrythmia
Infantile spasms/ West syndrome
Underlying abnormalities in spinal muscular atrophy (SMA)
Autosomal, recessive defect in survival motor neurone 1 gene (SMN1)
Leading to progressive denervation and weakness of skeletal muscle
Variable presentation (5 types) depends on SMN2 gene (backup) numbers
