Neurology Flashcards
(90 cards)
1
Q
Describe the pathophysiology behind vasovagal syncope’s
A
- Dysregulation of autonomic nervous system
- Stimulus (e.g. emotional event, pain, change in temp, standing for too long) can stimulate parasympathetic nervous system. (Usually triggered by reduced venous return which causes ventricles to contract vigorously in attempt to maintain CO; ventricular mechanoreceptors triggered and they stimulate parasympathetic system)
- Causes vasodilation and bradycardia
- Vasodilation of carotid arteries decreases blood supply to head
- Decreasing blood pressure in cerebral circulation
- Leads to hypoperfusion of brain
2
Q
State some potential causes of syncope
A
- Dehydration
- Missed meals/not eaten enough
- Standing for long periods
- Warm environment
- Stimuli e.g. surprise, pain, sight of blood
3
Q
Once a simple vasovagal syncope has been diagnosed, reassurance and advice can be given; what advice would you give?
A
- Avoid dehydration
- Avoid missing meals
- Avoiding standing for long periods
- When experiencing prodromal symptoms (hot, sweaty, heavy, dizzy, blurred vision, headache) sit or lie down. Try having something to eat & drink
4
Q
What are febrile convulsions?
What ages do they occur in?
A
- Seizures due to/caused by high fever. (Usually occur during viral infection as temp rises rapidly)
- 6 months - 5yrs (occur in 3% children)
5
Q
There are 3 types of febrile convulsions, compare each thinking about:
- Type of seizure
- Duration
- Frequency
A
Simple
- Generalised tonic clonic seizures
- Last <15 mins
- Only occur once during single febrile illness
Complex (have one or more of following)
- Partial or focal seizures (movement limited to one side of the body or one limb)
- Last >15 mins
- Recurrence within 24 hours or within the same febrile illness; or incomplete recovery within 1 hour.
Febrile Status Epilepticus
- Single seizure or a series of seizures without recovery between them that lasts at least 30 minutes
6
Q
State some differential diagnoses for febrile convulsions
A
- Epilepsy
- Neurological infection e.g. meningitis, encephalitis, cerebral malaria
- Space occupying lesions e.g. tumour, intracranial haemorrhage
- Syncopal episode
- Electrolyte abnormalities
- Trauma (always consider non-accidental injury)
7
Q
How do you diagnose febrile convulsions?
A
Must exclude other neurological pathology first e.g.
- 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)
Simple febrile convulsions do not require further investigations however complex febrile convulsions may.
8
Q
Discuss the management of febrile convulsions
A
- Children who have had first seizure or any features of complex seizure should be admitted to paediatrics
- Identify & manage underlying infection (e.g. abx if required)
- Control fever with simple analgesia (e.g. paracetamol, ibuprofen)
- Reassure & educate parents
- Give parents advice on how to manage seizure at home:
- Stay with child
- Put in safe place away from potential sources of injury e.g. on carpet with pillow under head
- Put in recovery position
- Don’t put anything in their mouth
- Call ambulance if lasts >5mins
- Following convulsion visit GP to be checked over
- May consider teaching parent how to use buccal midazolam or rectal diazepam
9
Q
Do febrile convulsions usually cause lasting damage?
How many infants/children will have another febrile convulsion?
A
- No
- 1 in 3
10
Q
Do febrile convulsions increase risk of epilepsy?
A
Epilepsy risk in…
- General population 1.8%
- After a simple febrile convulsion 2-7.5%
- After a complex febrile convulsion 10-20%
11
Q
What are seizures?
What is epilepsy?
A
- Seizures= sudden transient episode of abnormal electrical activity in the brain
- Epilepsy= a condition in which a person has a tendency towards recurrent seizures that are unprovoked by systemic or severe neurological insult
12
Q
Epilepsy most commonly occurs in isolation however there are some conditions that are associated with epilepsy; name 3
A
- Cerebral palsy (30% have epilepsy)
- Tuberous sclerosis
- Mitochondrial diseases
13
Q
Discuss how we classify seizures
A
Classify based on:
- Where in brain seizure began
- Level of awareness during seizure
- Other features of seizure
14
Q
State some different types of seizures
A
- Generalise tonic clonic
- Focal seizures
- Absence seizures
- Atonic seizures
- Myoclonic seizures
15
Q
Discuss what is meant by generalised seizures, include:
- Where they occur in brain
- Consciousness
- Subdivisons
A
- Involve both sides of brain at the onset
- Consciousness lost immediately (therefore don’t classify level of awareness in generalised seizures)
- Subdivisions, can be classified into motor & non-motor:
- Tonic-clonic (grand mal)- M
- Tonic- M
- Clonic- M
- Myoclonic- M
- Atonic -M
- Absence (petit mal)- NM
16
Q
For generalised tonic-clonic seizures, discuss:
- What motor activity is observed
A
- Muscle tensing (tonic) and muscle jerking (clonic) movements; typically tonic phase before clonic phase
17
Q
For myoclonic seizures, discuss:
- Consciousness
- Motor action
A
- Can be focal (therefore may or may not lose consciousness) or generalised (therefore will lose consciousness); typically consciousness preserved.
- Sudden brief muscle contractions
18
Q
For atonic seizures, discuss:
- Consciousness
- Motor action
A
- Can be generalised of or focal onset but degree of awareness not usually specified
- Also known as ‘drop attacks’ as there is a a paroxysmal loss in muscle tone so they drop to the ground
19
Q
For absence seizures, discuss:
- Consciousness
- Motor action
A
- Generalised onset therefore consciousness is lost
- Two subtypes:
- Typical: becomes blank, stares into space, may appear to be ‘day dreaming’ then suddenly return to normal. Unaware of surroundings during episode & won’t respond
- Atypical: last longer, start & end more slowly, may be able to respond to someone, may be able to move around but may be clumsy & floppy
20
Q
For tonic seizures, discuss:
- Consciousness
- Motor action
A
- May be generalised or focal so may or may not lose consciousness
- Muscles tense/tighten and body goes stiff- often results in falling to floor if standing. If generalised, will affect both sides of body. If focal, may only affect one area of body.
21
Q
For clonic seizures, discuss:
- Consciousness
- Motor action
A
- Can be generalised or focal onset so may or may not lose consciousness
- Jerking movements. If generalised, affect whole body. If focal, affect one area.
22
Q
Focal seizures may occur in the temporal lobe; what may a pt experience if the seizure is in the temporal lobe?
A
Hearing, speech, memory and emotion may be affected:
- Hallucinations
- Memory flashbacks
- Deja vu
- Doing strange things on autopilo
23
Q
Pts who have generalised seizures may have associated symptoms/signs/actions; state some of these
A
- Tongue/cheek biting
- Incontinence
- Irregular breathing
- Excessive salivation
24
Q
Following a seizure, pts may have post-ictal period; what may they experience in the post-ictal period?
A
- Confused
- Drowsy
- Tired
- Irritable
- Low in mood
25
Summary of seizure types
Image
26
A good history is key to diagnosing epilepsy as it allows you to establish whether the episodes were seizures or other pathology. State some key aspects of history
* **Before:** *dizziness, light-headedness, hot, pain,what were they doing, triggers/stimulus, aura*
* **During:** *lose consciousness or not, motor activity like, how long did it last, associated actions (e.g. tongue biting, incontinence), any injuries*
* **After:** *how did they feel, recover quickly or ‘off’, did they remember the episode, tired*
* **PMH, drugs & allergies**
* **FH**
*
27
What investigations are done when diagnosing epilepsy?
* **Electroencephalogram (EEG)**
* **MRI brain**: *to diagnose structural problems that may be causing seizures e.g. tumours. Consider if first seizure \<2yrs, focal seizures, no response to anti-epileptics*
* Additional investigation to exclude other extra-cranial pathology that may cause seizures:
* **ECG**
* **Plasma glucose**
* **U&Es**
* **Calcium**
* **Magnesium**
* **Blood culture, urine cultures, LP** (if suspect sepsis, meningitis, encephatlitis)
28
Management of epilepsy can be broadly split into: education & advice, medication & the specific management of seizures. What would you educate and advise parents about if their child has epilepsy?
* **Avoidance of situations that may put child, or others, in danger if they were to have a seizure:** *take showers rather than baths, cautious with swimming (must be well controlled and closely supervised), cautious with heights, cautious with traffic, cautious with heavy/hot/electrical equipment, if adolescent must comply with DVLA guidance*
* **Avoidance of known triggers**
* **How to manage seizures at home:**
* Stay with child
* Put in safe place away from potential sources of injury e.g. on carpet with pillow under head
* Put in recovery position
* Don't put anything in their mouth
* Make note of start time. Call ambulance if \>5 mins
* Buccal midazolam or rectal diazepam
29
There are a variety of anti-epileptic medications. Which antiepileptics are used for which types of seizure?
As a general rule:
* **Generalised seizures: sodium valproate** is first line
* **Focal seizures: carbamazepine** is first line
*\*Image shows Zero to Finals notes*
30
State some common side effects of all anti-epileptic drugs
* Sedation
* Dizziness
* Suicidal thoughts
* Nausea & vomiting
31
For sodium valproate, state:
* Mechanism of action
* Side effects
* Increases GABA activity to have inhibitory effect on brain
* Side effects:
* Teratogenic
* Hepatitis & liver damage
* Hair loss
* Tremor
32
For carbamazepine, state:
* Mechanism of action
* Specific side effects
* Binds to and blocks Na+ channel in the inactivated state and increases refractory period
* Side effects:
* Agranulocytosis
* Aplastic anaemia
* Visual disturbances
* SIADH
* Induces P450 system so many drug interactions
*
33
For phenytoin, state:
* Mechanism of action
* Specific side effects
* Binds to and blocks Na+ channels when in inactivated state and increases their refractory period
* Side effects
* Folate & vit D deficiency
* Megaloblastic anaemia *(folate deficiency)*
* Osteomalacia *(vit D deficiency)*
* Peripheral neuropathy
34
For lamotrigine, state:
* Mechanism of action
* Specific side effects
* Binds to and blocks sodium channels when in inactivated state and increases refractory period
* Side effects:
* Stevens-Johnson syndrome or DRESS syndrome
* Leukopenia
35
For ethosuximide, state:
* Mechanism of action
* Specific side effects
* Calcium channel blocker
* Side effects:
* Night terrors
* Rashes
36
What is status epilepticus?
Medical emergency in which pt has has either a single seizure lasting more than 5 minutes or \>/= 2 seizures within 5 minute period without person returning to normal inbetween
37
Discuss the management of status epilepticus
**ABCD approach:**
* Airway: secure airway
* Breathing: give high flow oxygen
* Cardiovascular: get IV access
* Disability: check blood glucose
Give **IV lorazepam.** This can be **repeated once after 10 minutes.** If still seizing, start second line agent such as **phenytoin or IV phenobarbital.** If no response after this, contact ICU/ (and) anaesthetist as **general anaesthesia with thiopentone** or other anaesthesia required.
38
There are numerous special forms of epilepsy recognised in children; state some of these
* Infantile spasms (West's syndrome)
* Lennox-Gastaut syndrome
* Benign rolandic epilepsy
* Juvenile myocylonic epilepsy (Janz syndrome)
39
For infantile spams (West's syndrome) state:
* What it is/what happens
* Cause
* What is seen on EEG
* Management
* Prognosis
* Rare disorder, starting around 6 months of age, characterised by clusters of full body spasms (flexionof head, trunk, limbs, extension of arms; repeat up to 50 times)
* Secondary to neurological abnormality (e.g. encephalitis, birth asphyxia) or cryptogenic
* EEG: hypsarrhythmia
* Management: prednisolone, vigabatrin
* Poor prognosis. Often have progressive mental handicap and ⅓ die by age 25yrs
40
Brief summary of special forms of epilepsy in children
41
What are breath holding spells?
What ages do they typically occur in?
* Involuntary episodes in which child holds their breath; child has no control over the breath holding spells. Usually triggered by something upsetting or scaring them
* 6 - 18 months
42
There are two types of breath holding spells; state and describe each
_Cyanotic breath holding spells_
* Occur when child is **upset, worked up, crying**
* After long cry they stop breathing, become cyanotic and unconscious
* Gain consciousness **within 1 minute** and start breathing
* May be tired/lethargic after
_Reflex anoxic seizures_
* Occur when child is **startled**
* **Vagus nerves signals heart to stop**
* Child suddenly goes pale, loses consciousness & may have **seizure-like muscle twitching**
* **Within 30secs** heart beats again and regain consciousness
43
Discuss the management of breath holding spells
* **Exclude other pathology**
* **Educate & reassure parents** (not harmful long term, do not lead to epilepsy, most grow out of it by 4-5yrs)
* Can be linked to **Fe deficiency anaemia** therefore investigate for and treat any Fe deficiency
44
There are lots of potential causes of headaches in children; state some
* Tension headache
* Migraine
* ENT infection
* Visual problems
* Analgesic headache
* Raised ICP
* Meningitis
* Encephalitis
* Brain tumour
* CO poisoning
45
For tension headaches, discuss:
* Presentation
* Causes/triggers
* Management
* Mild ache/pain/pressure across forehead in band like distribution. Not pulsatile. No visual changes. Comes on and goes gradually. In younger children very non-specific.
* Causes/triggers:
* Stress/fear
* Inadequate food & fluid intake
* Infection
* Management:
* Reassurance
* Regular meals & fluids
* Reduce stress
* Simple analgesics
46
State, and describe, some different types of migraine
* **Migraine with aura**
* **Migraine without aura**
* **Silent migraine** (migraine with aura but without headache)
* **Hemiplegic migraine** (experience temporary weakness on one side of body as part of attack)
* **Abdominal migraine** (recurrent attacks of central abdominal pain lasting \>1hr. Same/similar triggers as for head migraines. May be associated with n&V, headache, photophobia, aura… Children may develop migraines as they get older. Often grow out of abdominal migraines. Hence ask adults if they had abdo migraines as a child)
47
Describe typical presentation of a head migraine
* Unilateral, severe, throbbing head pain/ache
* Typically last 4-72hrs
* Photophobia
* Phonophobia
* Nausea & vomitting
* Aura
48
Discuss the management of migraines in children
* Supportive: rests, fluids, low stimulus environment
* Medication to use during attacks:
* Simple analgesics (e.g. paracetamol, ibruprofen)
* Sumatriptan
* Antiemetics (e.g. domperidone)
* If having significant impact on life then can offer prophylactic medication:
* Propanolol *(avoid asthma)*
* Pizotifen *(causes drowsiness)*
* Topiramate *(teratogenic so if child-bearing age need contraception)*
49
A cause of headaches is raised ICP; a cause of raised ICP is hydrocephalus. What is hydrocephalus?
**Abnormal build up of fluid in the ventricular system** in the brain; due to imbalance between **CSF production** and **absorption or drainage.**
50
State some causes of hydrocephalus- highlighting the most common
* **_Aqueductal stenosis_** (impairs CSF drainage from third ventricle so fluid accumulates in lateral & third ventricle)
* **Arachnoid cysts** (can block outlfow of CSF)
* **Arnold-Chiari malformation** (cerebellum herniates through foramen magnum blocking CSF outflow)
* **Chromosomal abnormalities & congenital malformations**
51
Describe typical presentation of hydrocephalus
_In young children_
* Rapidly increasing occipito-frontal circumference
* Bulging anterior fontanelle
* Sunsetting eyes
* Poor feeding
* Vomiting
* Poor tone
* Sleepy
* Papilloedema
_In older children_
* Headache (worse in morning, when lying down, during valsalva)
* Nausea & vomiting
* Paipilloedema
52
What investigations would you do if you suspect hydrocephalus?
* **First line= CT head**
* MRI to visualize in more detail
* Lumbar puncture (can be diagnostic & therapeutic in some cases- NOT ALL)
53
Discuss the management of hydrocephalus
* **Acute severe hydrocephalus:** external ventricular drain
* **Long term:** ventriculoperitoneal shunt *(drains CSF into another cavity- usually peritoneum- using catheter running under skin)*
* **Some cases may do surgery to remove obstruction**
54
Should you do a lumbar puncture in everyone with hydrocephalus?
No, don't do in obstructive hydrocephalus as difference of cranial and spinal pressures induced by the drainage of CSF will cause brain herniation.
55
State some potential complications of VP shunt
* Infection
* Blockage
* Intraventricular hemorrhage during surgery
* Excessive drainage *(valve in place to stop this)*
* Outgrowing them *(need replacing ~2yrs as child grows)*
56
For an extradural haematoma, remind yourself:
* What it is
* Common cause
* Presentation
* Investigations & findings
* Management
* Collection of blood between **skull and dura**; often in temporal region due to injury to **middle meningeal** artery as **pterion** is thin
* Most commonly caused by **low impact trauma**
* Presentation:
* **Headache**
* **Nausea & vomiting**
* **Confusion**
* **Lucid intervals** (initially lose consciousness, regains consciousness, then loses again later)
* As haematoma expands uncus of temporal lobe compresses parasympathetic fibres of CNIII so have **fixed dilated ispsilateral pupil**
* **Cushing's triad** *(bradycardia, irregular breathing, hypertension)*
* CT head: biconvex/lentiform/**lemon shaped hyperdense collection** limited by suture lines
* Management:
* If no neurological deficit, neurological & radiological observation is mainstay
* Definitive treatment is craniotomy & evacuation of haemoatoma
57
For an **acute** subdural haemorrhage, remind yourself:
* What it is
* Common cause
* Presentation
* Investigations & findings
* Management
* Acute **collection of blood within subdural space** *(potential space between dura & arachnoid)*
* **High impact trauma**
* Presentation:
* Headache
* Nausea & vomiting
* Confusion
* Enlarged head in baby as skull can expand
* Drowsy
* Loss of consciousness
* CT head: **crescentic/banana shaped hyperdense (light) collection-not limited by suture lines**. If large may see midline shift.
* Management:
* Small: observe & monitor
* Large: decompressive craniectomy
58
For a **chronic** extradural haemorrhage remind yourself:
* What it is
* Groups at risk
* Presentation
* Investigations & findings
* Management
* Collection of blood in subdural space that has been present/collecting for weeks to months due to rupture of bridging veins which causes slow bleeding.
* At risk= **elderly, alcoholics** *(brain atrophy hence fragile or taut bridging veins)* & **infants in shaken baby syndrome** *(their bridging veins are fragile)*
* Presentation:
* Progressive history of confusion, reduced consciousness, neurological deficit
* CT head= **crescentic/banana shaped hypodense (dark)**
* Managment:
* Small: observe/monitor over time
* Confused, severe or associated neurological deficit: surgical decompression with burr holes
59
For an subarachnoid haemorrhage remind yourself:
* What it is
* Common causes
* Presentation
* Investigations & findings
* Management
* Blood in the subarachnoid space
* Traumatic (most common) or spontaneous (berry aneurysm rupture, arteriovenous malformations, mycotic (infective) aneurysms, arterial dissection…
* Presentation:
* Sudden onset thunderclap headache
* Meningism
* Nausea & vomiting
* Seizures
* ECG changes like ST elevation
* Investigations:
* CT head: hyperdense area in basal cisterns
* Lumbar puncture: used if CT head is negative. Wait at least 12hrs after symptom onset to allow development of xanthochromia
* Will then need CT cranial angiogram to identify vascular lesion
* Management:
* Referral to neurosurgery
* Management depends on causative pathology
* E.g. if due to intracranial aneurysm, majority treated with a coil while some require craniotomy & clipping by neurosurgeon. Must be on bed rest & avoid straining until aneurysm treated. Vasospasm prevented with nimodipine, hypervolemia & induced hypertension
60
State some potential complications of SAH
* Re-bleeding (10%. Most common in first 12hrs. High mortality 70%)
* Vasospasm/delayed cerebral ischaemia (7-14 days after onset)
* Hyponatraemia (SIADH)
* Seizures
* Hydrocephalus
* Death
61
What are muscular dystrophies?
State some different types- highlight main one need to know for exams
* Genetic conditions that cause gradual weakening & wasting of muscles
* Types:
* **Duchennes muscular dystrophy**
* Beckers muscular dystrophy
* Myotonic dystrophy
* Facioscapulohumeral muscular dystrophy
* Occulopharyngeal muscular dystrophy
* Limb-girdle muscular dystrophy
* Emery-Dreifuss muscular dystrophy
62
What is Gower's sign?
* To **stand up**, child gets on h**ands & knees** then pushes **hips up**, then shifts weight backwards and **puts their hands on their knees**, keep their legs mostly straight then **walk their hands up their legs**
* Indicates **proximal muscle weakness**
63
For Duchenne's muscular dystrophy, discuss:
* Defect/mutation
* Inheritance pattern
* Presentation
* Management
* Defective **dystrophin gene on X-chromosome** *(dystrophin is a protein that helps hold muscles together at a cellular level)*
* **X-linked recessive** *(therefore daughters have 50% chance being carrier and sons have 50% of being affected)*
* Presentation:
* History of motor developmental delay, frequent falls
* 3-5yrs with weakness in muscles around pelvis
* Calf psuedohypertrophy
* Gower's sign
* Walking on toes with legs apart and belly pointed out
* Sway back/lordosis
* Weakness progresses so all muscles affected- usually in wheelchair by their teens
* More likely to have ADHD, ASD, learning disorders e.g. dyslexia, OCD
64
How is Duchenne's muscular dystrophy diagnosed?
* **Creatine kinase** *(high- suggesting muscle being broken down)*
* **Blood sample for genetic testing for defective dystrophin gene**
* If above gives negative result, **muscle biopsy** shows low levels of dystrophin
65
Discuss the management of Duchenne's muscular dystrophy
* **MDT management**: paediatricians, occupational therapy, physiotherapy
* **Medical appliances/aids/supports** e.g. wheelchairs, braces
* **Oral steroids** *(slow progression of muscle weakness)*
* **Creatine supplements** *(give slight improvement in muscle strength)*
* **Medical & surgical management of complications**
66
State some potential complications of Duchennes muscular dystrophy
Discuss prognosis of Duchennes muscular dystrophy
* Cardiomyopathy
* Scoliosis *(due to weak back muscles; can interferee with breathing leading to resp failure, sitting, sleeping etc)*
* Muscle contractures
* Pneumonia or respiratory infections
Life expectancy is **25-35yrs**; respiratory & cardiac complications most common reasons for premature death
67
For Beckers muscular dystrophy discuss how it compares to Duchenne's muscular dystrophy
* Both are an **x-linked recessive defect in dystrophin** gene on **chromosome X**
* **Duchennes is a more severe form** as there is a frameshift mutation resulting in one or both of biding sites being lost. Beckers is a milder form where there is a non-frameshift insertion so both binding sites are preserved
* Duchenne's presents around aged 3-5yrs, **Beckers presents around 10yrs.**
* Duchenne's need wheelchair by teens, **Beckers may need in late 20s or 30's** with some able to walk into later adulthood
* **Intellectual impairment less common** in Beckers
* **Management is similar** to Duchenne's
68
For myotonic dystrophy, discuss:
* When it usually presents
* Typical features
* **Adulthood**
* Presents with:
* Proximal muscle weakness
* **Prolonged muscle contractions** *(typical exam presentation is pt unable to let go after shaking hand or release grip on a doorknob)*
* Cataracts
* Cardiac arrhythmias
69
For facioscapulohumeral muscular dystrophy, discuss:
* When it usually presents
* Typical features
* Childhood
* Presentation:
* Weakness around face, progresses to shoulders & arms
* Sleeping with eyes slightly open
* Weakness in pursing lips
* Can't blow cheeks out without air leaking from mouth
70
For Occulopharyngeal muscular dystrophy, discuss:
* When it usually presents
* Typical features
* **Late adulthood**
* Presentation:
* Weakness of ocular muscles: **bilateral ptosis, restricted eye movement**
* Weakness of pharynx: **swallowing problems**
71
For limb-girdle muscular dystrophy, discuss:
* When it usually presents
* Typical features
* Teenage years
* Progressive weakness around limb girdles (hips & shoulders)
72
For Emery-Dreifuss muscular dystrophy, discuss:
* When it usually presents
* Typical features
* Childhood
* Contractures (most commonly at elbows & ankles)
* Progressive weakness & wasting of muscles- starting upper arms & lower legs
73
Discuss general management of all muscular dystrophies
Aim is for them to have highest quality of life for longest time possible. No cure.
* MDT: occupational therapy, physiotherapy, medical appliances (e.g. wheelchairs, braces)
* Management of complications
74
What is spinal muscular atrophy?
Briefly discuss different types
**Rare autosomal recessive neuromuscular** condition that causes progressive loss of **lower motor neurones in spinal cord;** leads to **progressive muscle weakness.** There will also be **signs of LMN lesions.** There are **different types that start at different ages and are of differing severities**.
* Type 1 presents youngest at \<6 months old and is most severe, usually die within 2yrs
* Type 2 presents in ages 7-18 months and is less severe than type 1. Most never walk but reach adulthood.
* Type 3 develops in children \>18 months old and is less severe than type 2. Most walk but subsequently lose ability. Resp muscles less affected. Close to normal life expectancy.
* Type 4 develops in adults and is mild. Walk short distances, may need wheelchair for certain activities. Everyday tasks lead to fatigue. Resp muscles & life expectancy not affected.
*\*LMN signs: weakness, areflexia, wasting/atrophy, hypotonia/flaccidity, fasciculations*
75
What is the inheritance pattern of spinal muscular atrophy?
Is it common?
* Autosomal recessive
* Rare
76
The presentation of spinal muscular atrophy will vary dependent on age; discuss how it may present
* Type 1 (\<6 months): hypotonia, unable to raise head or sit without support, difficulty eating/breathing/swallowing
* Type 2 (7-18 months): able to sit without help but difficulty standing & walking, tremors, scoliosis, weak respiratory muscles and weak cough so prone to infections
* Type 3 (\>18 months): able to stand & walk, balance problems, difficulty with steps or running, slight tremor, may lose ability to walk when older
* Type 4 (adults): weakness in hands & feet, difficulty walking, twitching muscles
77
How do you diagnose spinal muscular atrophy?
* If known history may have either CVS or amniocentesis during pregnancy
* Blood test from child for genetics
* Occasionally other tests e.g. electromyography, muscle biopsy
78
Discuss the management of spinal muscular atrophy
No cure so treatment is supportive to enable pts to have highest quality of life for longest possible time. **MDT approach:**
* Physiotherapy: exercises, splints, braces, wheelchairs
* Occupational therapist input
* Nutritional assistance e.g. NG tube, PEG
* Breathing help: exercises, suction machine, non-invasive ventilatory support, tracheostomy's for SMA type 1
* Surgical input for scoliosis
79
What is craniosynostosis?
How does it present?
* **Skull sutures close prematurely** resulting in **abnormal head shape and restriction of growth of fetal brain**
* Main presenting feature is **abnormal shape of head** (shape varies dependent on suture affected) but may also have **anterior fontanelle closure \<1yr of age** & **small head** (in proportion to body)
80
What investigations would you do if you suspect craniosynostosis?
Refer to specialist for investigations:
* First line= skull x-ray
* CT head if doubt after x-ray
81
Discuss the management of craniosynostosis
* Mild= follow up over time
* More severe= surgical reconstruction
82
State some potential complications of craniosynostosis
Discuss the prognosis
**Complications due to raised ICP** which can result in:
* Developmental delay
* Cognitive impairment
* Vomiting
* Irritability
* Visual impairment
* Seizures
* Neurological symptoms
**Prognosis is very good with proper management.**
83
# Define plagiocephaly
Define brachycephaly
* **Plagiocephaly: flattening of one area** of baby's head *(plagio= oblique/slanted)*
* **Brachycephaly: flattening of back of head** so have short head back to front
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What do we mean by positional plagiocephaly?
Idea that baby has tendency to rest head on particular point resulting in bones & sutures moulding to an abnormal head shape *(become more common as parents advised to rest babies on back due to risk of sudden infant death syndrome)*
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Discuss the management of plagiocephaly and brachycephaly
* **Exclude craniosynostosis**
* **Look for congenital muscular torticollis** (CMT):*shortening of SCM on one side which may be reason baby rests head on one side- physiotherapy can help treat torticollis*
* **Reassurance** *(head often returns to normal shape as child grows)*
* **Simple measures:**
* Positioning them on the rounded side for sleep
* Supervised tummy time
* Using rolled towels & other props
* Minimising time in pushchairs, car seats etc… where they can rest head in one position
*\*NOTE: plagiocephaly helmets exist but have to be used for vast majority of day, cause problems with skin and psychosocial issues. Not routinely available on NHS.*
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What is a squint?
Why does a squint need correcting in childhood?
* **Misalignment of eyes** (also known as strabismus)
* In childhood, eyes haven't fully established connections with brain; hence, brain will cope with misalignment by reducing signals from the less dominant eye. Hence they use one eye to see (dominant eye) and ignore the other eye (lazy eye). If this is not treated the lazy eye becomes progressively more disconnected from the brain and problem worsens over time resulting in amblyopia.
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# Define the following:
* Amblyopia
* Esotropia
* Exotropia
* Hypertropia
* Hypotropia
* ***Amblyopia***: 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
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State some potential causes of childhood squint- highlighting most common in otherwise healthy children
* **Idiopathic**
* Hydrocephalus
* Cerebral palsy
* SOL (e.g. retinoblastoma)
* Trauma
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What two tests can you use for childhood squint?
* ***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***).
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Discuss the management of childhood squints
Visual fields are still developing up until 8yrs of age therefore treatment needs to start before 8yrs:
* **Occlusive patch to cover good eye** (to force weaker to develop)
* Alternative to patch is **atropine drops in the good eye** (causing vision to be blurred so forcing them to use weaker eye)
