Neurology Flashcards
What is the first-line and second-line management for generalised tonic-clonic seizures?
First line: Sodium Valproate
Second line: Lamotrigine / Carbamazepine
What is the first-line and second-line management for focal seizures?
First line: Carbamazepine / Lamotrigine
Second line: Sodium Valproate / Levetiracitam
How can focal seizures aka partial seizures be classified?
- Awareness level i.e. focal aware, or focal impaired
- Motor or non motor
- Site in brain i.e. Temporal, frontal, parietal or occipital
What are the features characteristic of a focal seizure affecting the temporal lobe?
HEAD mnemonic:
- H: Hallucinations
- E: Epigastric rising, emotional
- A: Automatisms i.e. lip smacking / grabbing, plucking
- D: Dysphasia, De-ja vu
What are the features characteristic of a focal seizure affecting the frontal lobe?
Motor signs:
- Leg / head movements
- Jacksonian march
- Postictal weakness
What are the features characteristic of a focal seizure affecting the parietal lobe?
Parietal = Paresthesia
What are the features characteristic of a focal seizure affecting the occipital lobe?
Visual disturbances
- Flashes & floaters
In simple terms, outline what a seizure is?
Transient episodes of abnormal electrical activity in the brain
How can Generalised Seizures be classified?
- Not by awareness level, as all patients are unconscious
- Tonic
- Clonic
- Tonic-Clonic
- Atonic
- Myoclonic
- Absence
For Absence Seizures:
- What is the typical onset in age?
- What is the duration of them?
- What are the EEG findings?
- What is the prognosis?
- What is the management?
- Onset: 4-8 years old
- Duration: up to 30s, fast recovery
- EEG: 3Hz spike and wave
- Prognosis: 90%+ become seizure free by adolescence
- Treatment: Sodium Valproate / Ethosuxamide
For Febrile Seizures:
- What is the typical onset in age?
- What is the duration of them?
- What is the usual cause?
- What is the prognosis?
- What is the classification?
- Onset: 6mo - 5 years old
- Duration: upto 5 mins usually
- Cause: Caused by a fever, typically influenza, otitis media
- Prognosis: Good prognosis, majority only have 1 episode
- Classification: Simple & complex
Outline the classification of Febrile seizures into simple
and complex
Simple - Last less than 15mins, usually tonic-clonic, and only occur once during febrile illness
Complex - Last longer than 15mins, can have focal seizures, and may occur multiple times during febrile illness
What is type of generalised seizure is associated with Lennox-Gastaut Syndrome?
Atonic seizures
For Infantile Spasms:
- What is it also known as?
- What is the typical onset in age?
- Describe the spasms?
- What is the duration?
- What are the EEG findings?
- What is the prognosis?
- What is the management?
- Known as: West Syndrome
- Onset: Few months of life
- Spasm description: Flexion of the head, trunk, arms, followed by extension of the arms (Salaam attack)
- Duration: 1-2secs, upto 50x a day
- EEG: Hypsarrhythmia
- Prognosis: Poor
- Management: Vigabatran, ACTH
For Benign Rolandic Epilepsy:
- Describe the epilepsy?
- Prognosis?
- Description: Parasthesia, usually on face
- Prognosis: Outgrown by puberty
State the various Seizures associated with children
- Absence seizures
- Febrile seizures
- Infantile spasms (West Syndrome)
- Lennox-Gastaut Syndrome
- Benign Rolandic Epilepsy
- Juvenile Myoclonic Epilepsy
For Juvenile Myoclonic Epilepsy:
- What is it also known as?
- What is the typical onset in age?
- Describe the epilepsy?
- Management?
- Known as: Janz syndrome
- Onset: Teen years, more common in GIRLS
- Description:
1. Generalised seizures in morning
2. Daytime absences
3. Sudden myoclonic seizures - Management: Sodium Valproate
For Lennox-Gastaut syndrome:
- What is the typical onset in age?
- What is it associated with?
- Describe the seizure?
- What are the EEG findings?
- What is the management?
- Onset: 1-5 years of age
- Association: Infantile spasms
- Description: Atypical absences
- EEG: Slow spike
- Management: Ketogenic diet
In simple terms, outline what a breath holding spell is?
A breath holding spell refers to involuntary episodes during which a child holds its breath, and is usually triggered by something upsetting or stressful
What is the epidemiology of breath holding spells?
Common in children between 6-18 months. Usually outgrown by 4-5 years old
What are the two types of breath holding spells? Describe them?
- Cyanotic breath holding spells
Child is upset, and will cry followed by breath holding, will become cyanotic and lose consciousness - Pallid breath holding spells (aka reflex anoxic spells)
Child is startled, stimulating the vagus nerve to send impulses to reduce heart contractility. Child will go pale and lose consciousness
In simple terms, outline what cerebral palsy is?
Cerebral palsy is a NON-PROGRESSIVE neurodevelopmental disorder causing loss of muscle control
How is Cerebral Palsy classified?
Classified on area of brain affected:
PYRAMIDAL
- Spastic (affects cortex)
EXTRA-PYRAMIDAL
- Athetoid / Dyskinetic (affects basal ganglia)
- Ataxic (affects cerebellum)
Mixed
Describe the features of Spastic Cerebral Palsy
Muscles are stiff and hypertonic, patient may have a scissor gait (adductor muscle flexion) or toe walk (calf muscle flexion)
Describe the features of Athetoid / Dyskinetic Cerebral Palsy
Slow, involuntary, writhing movements, dystonia, chorea
What are some treatments for muscle spasms exhibited in Cerebral Palsy?
- Oral diazepam
- Oral / intrathecal baclofen
- Botox Type A
- Orthopaedic surgery
- Selective dorsal rhizotomy
What are the two types of Dystrinopathies?
- Duchenne Muscular Dystrophy
- Beckers Muscular Dystrophy
Name all of the Muscular Dystrophies (7 types)
- Duchenne Muscular Dystrophy
- Beckers Muscular Dystrophy
- Myotonic Muscular Dystrophy
- Fascioscapulohumeral Muscular Dystrophy
- Oculopharyngeal Muscular Dystrophy
- Limb-girdle Muscular Dystrophy
- Emery-Dreifus Muscular Dystrophy
What is the function of the Dystrophin protein?
Dystrophin helps anchor transmembrane proteins to the intracellular actin cytoskeleton
What is the inheritance pattern of Duchenne and Becker’s Muscular Dystrophy?
X-Linked recessive
What mutations are Duchenne and Becker’s Muscular Dystrophy caused by?
What is the difference is age of presentation and severity of symptoms?
Duchenne:
- Nonsense mutation / Frameshift mutation
- Age of presentation before age 5
- More severe symptoms
Beckers: Missense mutation
- Age of presentation between 10-20 years old
- Less severe symptoms
What two signs are typically seen in Duchenne / Becker’s Muscular Dystrophies?
Gower’s sign: Child using arms to stand up from a squatted position
Calf pseudohypertrophy: Enlarged calves from fat and fibrotic tissues
What are tests which can help diagnose Duchenne / Becker’s Muscular Dystrophy?
- Elevated creatinine kinase
- Positive mutations in Dystrophin gene (DNA test, Western blot)
- Muscle biopsy (positive stain for Dystrophin)
What is the life expectancy for Duchenne and Becker’s Muscular Dystrophy?
25-35 years of age
What is the management for Duchenne and Becker’s Muscular Dystrophy?
- Creatinine supplementation: Improves muscule strength
- Oral steroids: Slow progression of muscle weakness by 2 years
Becker’s Muscular Dystrophy is characterised by early involvement of what in the heart?
Right ventricle
What are the two most common causes of death in DMD patients?
- Dilated cardiomyopathy
- Respiratory failure due to weakened diaphragm
Duchenne and Becker’s Muscular Dystrophy is more common in which gender? What about the opposite gender?
Males
Females are asymptomatic or can be manifesting carriers
Outline the features of Fascioscapulohumeral Muscular Dystrophy?
- Weakeness around face -> progresses to shoulder and arms
- Patients may sleep with eyes slightly open, and struggle to blow out cheeks without air leaking
Outline the features of Oculopharyngeal Muscular Dystrophy?
Weakness of ocular muscles and phargynx -> Ptosis and dysphagia
Outline the features of Limb-girdle Muscular Dystrophy?
Progressive weakness around hips and shoulders
Outline the features of Emery-Dreifuss Muscular Dystrophy?
Contractures in elbows and ankles
What is the inheritance pattern of Myotonic Muscular Dystrophy?
Autosomal Dominant
What are the two types of Myotonic Dystrophy and what is the genetic basis of them? Which is more severe?
Type 1 (DM1) - MORE SEVERE
- Trinucleotide expansion repeat of CTG on DMPK gene (>50 repeats)
- Type 1 has a congenital form and an adult form
Type 2 (DM2) - Tetranucleotide expansion repeat of CCTG on CNMP gene (>75 repeats)
Outline how Myotonic Dystrophy demonstrates genetic anticipation?
Increased number of CTG/CCTG repeats due to slipped misparing, hence with each generation they have a higher number of repeats presenting earlier and with more severe symptoms
What is the classic symptom associated with Myotonic Dystrophy?
Sustained muscle contractions, and difficulty relaxing -> unable to release grip from handshakes / doorknobs
What facial features are associated with Myotonic Dystrophy?
Long, haggard myotonic face
Frontal balding
What are some associations with Myotonic Dystrophy?
- Insulin resistance / T2D
- Cataracts
- Cardiac arrhythmias: Prolonged PR interval
Outline in simple terms, what Spinal Muscular Atrophy is?
A neuromuscular disorder characterised by premature death of the alpha-LMNs which supply the motor end plate, causing muscle atrophy
What are the clinical features of Spinal Muscular Atrophy (SMA)?
Reduced muscle bulk Reduced muscle power Reduced muscle tone Reduced / absent deep tendon reflexes Fasciculations
Inheritance pattern of Spinal Muscular Atrophy?
Autosomal Recessive
What are the different types of Spinal Muscular Atrophy? What is the genetic basis of this condition?
Type 1A, 1B, 2, 3, 4 (most -> least severe)
Caused by homozygous deletion of SMN1 gene. Some people do have a SMN2 gene which produces small amounts of functional protein
No. of SMN2 copies determines severity of Spinal Muscular Atrophy. If more SMN2 copies, less severe SMA
Outline what Reye’s Syndrome is?
A hepato-encephalopathy caused by aspirin used during a viral illness (VZV, Influenza B)
What condition would it be acceptable to prescribe Aspirin in children?
Kawasaki’s disease, where benefits outweigh the negatives
What lab results may be suggestive of Reye’s Syndrome?
- Increased ALT, AST
- Increased Billirubin
- Increased serum ammonia
What other drugs aside from Aspirin can cause Reye’s Syndrome?
- Tetracycline ABX
- Sodium Valproate
- HAART for HIV
In simple terms, outline what Hydrocephalus is?
Refers to CSF abnormally building up in the brain and the spinal cord, due to overproduction or inadequate drainage
Outline how CSF is produced and drained?
CSF is produced from the four ventricles of the brain, specifically the choroid plexus. The CSF drains into the venous system via the arachnoid granulations
What connects the 3rd and 4th ventricle in the brain?
Cerebral aqueduct
What are causes of Hydrocephalus in babies?
- Cerebral aqueduct stenosis
- Arachnoid cysts
- Arnold-Chiari malformations
- Chromosomal abnormalities and congenital malformations
Outline what an Arnold-Chiari malformation is?
This refers to herniation of the cerebellum downwards into the foramen magnum, blocking CSF outflow
What is the presentation of Hydrocephalus in babies?
- Increased occipito-frontal circumference
- Failure of UPWARD gaze “sunsetting eyes”
- Bulging anterior fontanelle
- Hypotonia
- Sleepiness
What is the management of Hydrocephalus in babies?
Ventriculo-peritoneal shunt, which drains CSF -> Peritoneal cavity
External ventricular drain, which drains CSF from R-lateral ventricle -> bedside
Surgery
What are complications of a VP shunt?
- Outgrowing it / replacement
- Infection
- Blockage
- Excessive drainage
- Intraventricular haemorrhage
What is Craniosyntosis?
Skull sutures close prematurely, causing abnormal head shape and brain growth restriction
What are the types of Craniosyntosis?
- Saggital syntosis (most common)
- Coronal syntosis
- Metopic syntosis
- Lambdoid syntosis
What is Plagiocephaly and Brachycephaly?
Why does it occur?
What is the age of onset in babies?
Why has its prevalence increased?
- Plagiocephaly - Oblique shaped head
- Brachycephaly - Short shaped head
Occurs when a child has a tendency to rest their head on a particular point
Presents in babies aged 3-6 months
Prevalence has increased due to parents resting their babies in supine position to minimise risk of SIDS
For Plagiocephaly and Brachycephaly, what is important to exclude?
Must exclude Craniosyntosis by palpating suture lines, and must exclude Congenital Muscular Torticollis (shortening of sternocleidomastoid muscles)
How can Plagiocephaly and Bracycephaly be managed?
- Reassurance that the majority will improve with time
- Supervised time lying prone
- Position on rounded side for sleep
- Using rolled towels to support head
- Minimise time in carseats / pushchairs
- Plagiocephaly helmets (not routinely on NHS)
In simple terms, outline what “Syncope” is?
Syncope refers to an event of temporarily losing consciousness due to disruption of blood flow to the brain, often causing a fall
Outline how the pathophysiology of a Vasovagal attack?
A vasovagal attack is a problem with the autonomic nervous system regulating blood flow to the brain.
When the vagus nerve receives a strong stimulus -> stimulates PNS. PNS activation overrides SNS, causing blood vessels to relax, the BP in cerebal circulation to drop and hypoperfusion
Outline symptoms of Prodome, which precipitates a Vasovagal attack?
- Being hot and clammy
- Sweaty
- Vision going blurry
- Feeling heavy
- Feeling dizzy, light headed
- Headache
Is incontinence specific to syncope, or seizures?
Both syncope and seizures can bring on incontinence
What are some primary causes of syncope?
- Dehydration
- Fasting
- Extended standing in a warm environment
- Vasovagal response to pain, sight of blood etc
What are some secondary causes of syncope?
- Hypoglycaemia
- Anaemia
- Infection
- Anaphylaxis
- Arrhythmias
- Valvular heart disease
- HOCM
What things would you examine in a patient with syncope?
- Cardiovascular exam for pulse, HR, rhythm, murmurs
- Physical injuries due to the syncope
- Lying and standing blood pressures
- Neurological examination
- Assess concurrent illness i.e. Infection / Gastroenteritis
