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Neuro Flashcards

1
Q

What is a reflex anoxic seizure (RAS)?

A

A particular type of transient LOC with stiffening and/or shaking, and a rapid recovery in infants and toddlers.

  • NOT epileptic or due to deliberate breath-holding.
  • It is a type of severe syncope or ‘faint’, caused by a temporary loss of the blood supply to the brain
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2
Q

What can reflex anoxic seizures be triggered by?

A
  • Pain
  • Head trauma
  • Cold food (ice cream)
  • Fright
  • Fever
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3
Q

What are the S/S of a reflex anoxic seizure?

A

Child becomes very pale and falls to floor
+/- general tonic clonic fitting

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4
Q

What is febrile convulsion?

A

Seizures provoked by fever in otherwise normal children (absence of intracranial infection)

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5
Q

What age do febrile convulsions typically occur?

A

Typically occur 6m-5yrs
3% of children

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6
Q

What are the types of febrile convulsion?

A

Simple febrile seizure:

  • Isolated, brief, generalised clonic/tonic-clonic seizure lasting <5 minutes
  • Complete recovery within 1hr
  • > No increased risk of epilepsy

Complex febrile seizure

  • Focal seizure with focal features lasting >15 minutes
  • Repeat seizure within same illness / incomplete recovery from seizure <1hr
  • > Higher risk of subsequent epilepsy

Febrile status epilepticus

  • Prolonged seizure or multiple short seizures without regaining consciousness in between, lasting > 30 minutes
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7
Q

What are the S/S of febrile convulsion?

A

Seizure on background of fever

  • Usually occur early in a viral infection as temp rises rapidly
  • Respiratory distress, tachycardia, tachypnoea
  • NO signs of meningitis or encephalitis
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8
Q

What are the investigations for febrile convulsion?

A

Clinical diagnosis

Tests only indicated if suspicion of sepsis / meningitis / encephalitis

  • Bloods (FBC, U&Es, glucose, blood culture, viral studies)
  • Urine MC&S
  • LP
  • MRI
  • EEG
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9
Q

What is the management for during a seizure?

A
  • Protect head from injury
  • Remove harmful objects nearby
  • Do not restrain or put anything in their mouth
  • When seizure stops, check their airway and put them in the recovery position
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10
Q

What is the management of febrile convulsion?

A

<5 minutes:
Manage at home

>5 minutes:
PR diazepam repeated once after 5mins if ongoing
OR
Single dose buccal midazolam

Call ambulance:
No drugs available / ongoing 10 minutes after first dose

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11
Q

When do you admit a child with febrile convulsion?

A
  • First febrile seizure
  • Second seizure in child who hasn’t been assessed before
  • Diagnostic uncertainty about cause of seizure
  • Seizure lasted >15 mins
  • Focal features during seizure
  • Seizure recurred in same febrile illness (or within 24 hours)
  • Incomplete recovery after 1 hour
  • <18 months old
  • Parents anxious and feel that they cannot cope
  • Suspected cause of fever (e.g. pneumonia)
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12
Q

What advice do you give to parents regarding febrile convulsion?

A
  • NOT the same as epilepsy
  • Many children will have another seizure
  • If recurrent, teach parents how to give medications
  • Continue routine immunisations
  • To mx fever > do not try and cool the child, adequate fluid intake, regular paracetamol and ibuprofen, seek advice if prolonged fever
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13
Q

What is epilepsy?

A

2 or more seizures unprovoked by an immediately identifiable cause

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14
Q

What are the RFs for epilepsy?

A
  • Genetic predisposition
  • Perinatal asphyxia
  • Metabolic disorders
  • Trauma
  • Structural CNS abnormalities
  • Complex febrile seizures
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15
Q

Describe the classification of seizures

A

Location:

  • Focal, Generalised, Focal to bilateral, Unknown

Level of awareness:

  • Aware (focal)
  • Impaired awareness (focal or generalised)
  • Awareness unknown (unwitnessed)

Focal onset:

  • Motor (twitching, jerking, stiffening, automatisms)
  • Non-motor (Cognitive, emotional, sensory)
  • Focal to bilateral tonic clonic

Generalised / unknown onset:

  • Motor = tonic clonic, other motor
  • Non-motor = absence (brief changes in awareness +/- automatic/repeated movements)
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16
Q

What are the S/S of a generalised non-motor (absence) seizure?

A
  • Brief impairment of consciousness (5-10 seconds)
  • Child stares or blinks / no awareness of surroundings / ‘daydreaming’ in class / reduced performance in school
  • Usually undergo spontaneous remission during adolescence
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17
Q

What are the S/S of a tonic-clonic seizure?

A
  • Preceding aura
  • Pt falls unconscious
  • Tonic extension lasting a few seconds followed by clonic rhythmic movements (violent muscle contractions and shaking)
  • Prolonged post-ictal phase
  • Associated with tongue biting, urinary/faecal incontinence, eye-rolling
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18
Q

What are the S/S of a myoclonic seizure?

A
  • Sudden brief arrhythmic muscle contractions
  • Often cluster within a few minutes
  • If they evolve into rhythmic jerking movements > clonic
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19
Q

What are the S/S of an atonic seizure?

A
  • Brief loss of postural tone, often resulting in falls and injuries
  • Occurs in people with significant neurological abnormalities
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20
Q

What are the S/S of an clonic seizure?

A

Rhythmic, jerking movements

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21
Q

What are the S/S of a tonic seizure?

A

Sudden-onset tonic extension or flexion of the head, trunk and/or extremities for several seconds

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22
Q

What is status epilepticus?

A

Generalised convulsion lasting >5 mins

OR

Repeated convulsions without recovery or consciousness between

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23
Q

What is Benign Rolandic Epilepsy (BRE)?

A

Most common childhood epilepsy, outgrown at end of puberty

  • Seizures of face / upper limbs during sleep
  • Hypersalivation
  • Speech arrest
  • Paraesthesia (e.g. unilateral facial droop) usually on waking up
  • Age 3-12yrs
  • Tx not usually given
  • Starts focal e.g. dropping of one side of the face
  • Becomes generalised e.g. tonic clonic seizure
  • Usually caused by sleep deprivation

Typical EEG = starts focal then spreads

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24
Q

What is juvenile myoclonic epilepsy?

A

An epilepsy syndrome characterized by myoclonic jerks (typically in arms and legs)

  • Often occur when people first awaken in the morning
  • Typical onset is around puberty / teens
  • Can also have generalized tonic-clonic seizures and absence seizures
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25
Q

What is progressive myoclonic epilepsy?

A
  • Rare group of disorders caused by variety of genetic mutations
  • Combination of myoclonic and tonic-clonic
  • Progressive decline in neurological function
  • Pt deteriorates over time
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26
Q

What is Lennox-Gastaut Syndrome?

A

Characterised by multiple seizure types including tonic, atonic , atypical absences

  • 90% moderate-severe mental handicap (developmental regression, learning disability)
  • 50% have hx of infantile spasm
  • 1-3yrs
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27
Q

What are the investigations for epilepsy?

A
  • EEG
  • MRI (rule out underlying pathology)
  • LP (if infective cause suspected)
  • ECG / Echo / lying/standing BP (exclude cardiac cause)
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28
Q

What is the pharmacological management of epilepsy?

A

Not all children with epileptic seizures require antiepileptic therapy

Generalised (tonic-clonic, myoclonic, absence)
= Sodium Valproate (1st line)

Focal
= Carbamazepine or lamotrigine (1st line)

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29
Q

Which AEDs exacerbate which seizure types?

A
  • Carbamazepine > exacerbates absence seizures
  • Lamotrigine > exacerbates myoclonic seizures
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30
Q

What are the side effects of AEDs?

A

Valproate
= Weight gain, hair loss, rare idiosyncratic liver failure

Carbamazepine
= Rash, neutropenia, hyponatraemia (SIADH), ataxia

Lamotrigine
= Severe skin rash (SJS)

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31
Q

What is the treatment for drug-resistant epilepsy?

A
  • Ketogenic diet (low carb, fat based)
  • Vagal nerve stimulation
  • Surgery (epilepsy with well-localised structural cause)
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32
Q

What advice would you give parents regarding epilepsy?

A
  • Avoid precipitating factors e.g. alcohol, sleep deprivation, drugs
  • Supervision in swimming pools / baths
  • Information on driving and insurance
  • Advice on SUDEP
  • Side effects of drugs
  • Video future seizure
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33
Q

What is the management of status epilepticus?

A

EMERGENCY, ABCDE approach, requiring hospital treatment

1. Secure airway + high-flow O2
2. Immediate IV access = IV lorazepam
No immediate IV access = rectal diazepam or buccal midazolam
3. No response in in 10 mins = second dose of IV lorazepam
4. Seizures continue, SENIOR HELP NEEDED + ANAESTHETIST = phenytoin infusion (monitor ECG and BP)
5. Refractory = general anaesthesia (thiopentone)
6. +/- dexamethasone (if vasculitis / cerebral oedema possible)

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34
Q

What are infantile spasms?

A

Brief spasms beginning in first few months of life

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35
Q

What is West Syndrome?

A

1. Infantile spasms
2. Specific age of onset (3-8m)
3. Hypsarrhythmia (EEG)

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36
Q

What are the causes of infantile spasms?

A
  • Symptomatic (any disorder causing brain damage)
  • Genetic syndromes
  • Prenatal conditions
  • Congenital infections
  • Hypoxic/ischaemic/traumatic brain damage
  • Idiopathic
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37
Q

What are the S/S of infantile spasms?

A

Sudden, rapid, tonic contractions of trunk and limb muscles with gradual relaxation over 0.5-2 seconds

  • Occurs in clusters, repeat up to 50 times
  • Usually associated with waking or before sleeping
  • Salaam attacks = Flexion of head, trunk and limbs then extension of arms (head goes down, arms go in air)

Also

  • Psychomotor delay
  • Hyperpigmented skin lesions
  • Growth restriction
  • Progressive mental handicap / intellectual disability
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38
Q

What are the investigations for infantile spasms?

A

EEG
= hypsarrhythmia (disordered activity in brain)

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39
Q

What is the management of infantile spasms?

A
  • Urgent referral to paediatric neurologist for assessment
  • Vigabatrin + prednisolone
  • Regular reviews
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40
Q

What is the prognosis of infantile spasms?

A

Poor prognosis (1/3 die before 3yrs)

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41
Q

What is a vasovagal syncope?

A

Temporary LOC due to the sudden decline of blood flow to the brain (‘fainting’)

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42
Q

What are the causes of a vasovagal?

A

Emotional = fear, pain, shock, sudden sounds or sights
Orthostatic = prolonged standing, crowds, hot

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43
Q

What are the S/S of a vasovagal?

A
  • Brief LOC with spontaneous recovery
  • No signs of seizure activity
  • Link to trigger
  • May experience ‘presyncope’ (i.e. feeling that they are about to faint)
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44
Q

What are the investigations for a vasovagal?

A
  • Lying and standing BP (+ ECG if indicated > ?cardiac issue)
  • FBC (rule out anaemia +/- bleeding)
  • Tilt table test
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45
Q

What is the management of vasovagals?

A
  1. Educate child and parents
  2. Avoid triggers
  3. Lie down flat to avoid fainting
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46
Q

When must you CT a child?

A

Head injury + 1 or more of the following = CT <1hr

  • NAI
  • Post-traumatic seizure (no epilepsy hx)
  • GCS <14
  • 2hrs post injury GCS <15
  • Suspected open/depressed skull fracture / tense fontanelle
  • Basal skull fracture signs > racoon eyes, battle signs, rhinorrhoea
  • Focal neurological deficit
  • Child <1yr and bruise, swelling or laceration >5cm on the head

Head injury + 2 or more of the following = CT scan <1hr
Head injury + 1 of the following = observe for minimum of 4hrs

  • LOC >5 minutes
  • Abnormal drowsiness
  • 3 or more vomits
  • Dangerous mechanism / high-impact injury
  • Amnesia >5 minutes (anterograde and retrograde)
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47
Q

What are the causes of an extradural?

A

Usually direct head trauma causing arterial or venous bleeding
Most typically ‘low-impact’ trauma (e.g. blow to head or fall)

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48
Q

What are the S/S of an extradural?

A

Pt initially loses, briefly regains, and then again loses consciousness after low-impact head injury

  • Lucid interval followed by deterioration of consciousness and seizures
  • Severe headache
  • Dilatation of ipsilateral pupil
  • Paresis of contralateral limb
  • Shock
  • Battle sign / racoon eyes
49
Q

What are the investigations for an extradural?

A

CT-head = LEMON
Biconvex (lentiform), hyperdense collection around the surface of the brain

50
Q

What is the management of an extradural / subdural?

A

Initial management:

  1. Supportive care = ventilatory support, blood transfusion if shocked, fluid resus to correct hypovolaemia
  2. Cervical spine immobilisation = if traumatic mechanism of injury
  3. Tx of raised ICP = 30% head of bed elevation, mannitol, hypertonic saline

Definitive tx = craniotomy and surgical evacuation of haematoma with coagulation at bleeding site

51
Q

What are the causes of a subdural?

A

= Mainly in young infants

  • Birth trauma / forceps delivery
  • LBW infants
  • High falls
  • NAI caused by shaking
52
Q

How are subdurals classified?

A
  • Acute = most commonly caused by high-impact trauma, can occur in neonates by rupture of the vein of Galen
  • Subacute = gradual pooling of blood in the subdural space that occurs within 4-21 days from the head injury
  • Chronic = present for weeks/months, caused by rupture of small bridging veins within the subdural space, can be due to shaken baby syndrome
53
Q

What are the S/S of a subdural?

A

Gradually decreasing GCS (no lucid interval)

  • Acute = shock, seizures, coma, retinal haemorrhages
  • Chronic = macrocephaly, FTT, developmental delay
54
Q

What are the investigations for a subdural?

A

CT-head = BANANA

  • A crescent collection, not limited by suture lines
  • Large haematomas will push on the brain (‘mass effect’) causing a midline shift or herniation

Acute = hyperdense
Chronic = hypodense

55
Q

What are the causes of a subarachnoid haemorrhage?

A

Caused by ruptured berry aneurysm or arteriovenous malformation

= Rare in children

56
Q

What are the S/S of a subarachnoid?

A
  • Sudden onset occipital headache
  • Neck stiffness
  • Fever
  • +/- seizures or coma
  • Retinal haemorrhages
  • N&V
57
Q

What are the investigations for a subarachnoid?

A

CT-head:

  • Acute blood (hyperdense) distributed in the basal cisterns, sulci and in severe cases the ventricular system

LP:

  • If CT negative
  • > 12hrs after onset of sx to allow development of xanthochromia
  • Avoid if risk of increased ICP
58
Q

What is the management of a subarachnoid?

A

Surgical correction of AV malformation
or
Radiological clipping of aneurysm

59
Q

How is an intraventricular haemorrhage classified?

A

Grade I (most common):

  • Bleeding ONLY in germinal matrix
  • No further complications

Grade II:

  • Intraventricular bleeding but NO enlargement of the venticles

Grade III:

  • Intraventricular bleeding with enlargement of the ventricles
  • Can lead to long-term brain injury

Grade IV:

  • Bleeding extends into brain tissue around the ventricles
  • After grade III/IV, blood clots can form which cause secondary hydrocephalus
  • 50% with progressive post-haemorrhagic ventricular dilatation develop cerebral palsy in later life
60
Q

What are the causes of an intraventricular haemorrhage?

A

> Vast majority occur in first 72hrs after birth

  • Prematurity / VLBW / LBW
  • Birth trauma combined with cellular hypoxia
61
Q

What are the S/S of an intraventricular haemorrhage?

A
  • Sleepiness and lethargy
  • Seizures
  • Poor tone
  • Apnoea
  • Shock
  • Anaemia
  • Tense fontanelle
  • Grade I/II may be asx
  • Reduced/absent Moro reflex
  • Signs of raised ICP (bulging fontanelle, Cushing response)

= Monitor head circumference for progressive hydrocephalus

62
Q

What are the investigations for an intraventricular haemorrhage?

A

Trans-fontanelle USS = used for dx and classification

Bloods = FBC, clotting, capillary gas for acid/base balance

63
Q

What is the management for an intraventricular haemorrhage?

A

There is no way to stop bleeding associated with IVH. The health care team will try to keep the infant stable and treat any symptoms the baby may be having.

  • Fluid replacement
  • Anticonvulsant
  • Blood transfusion may be given to improve blood pressure and blood count
  • Ventriculo-peritoneal Shunt (VPS) if hydrocephalus
64
Q

What is hydrocephalus?

A

Excess volume of CSF within the ventricles from abnormal flow, absorption or production

65
Q

Describe the classification of hydrocephalus

A

Obstructive / Non-communicating:
(structural pathology blocking the flow of CSF within the ventricles)

  • Congenital aqueduct stenosis
    Dandy-Walker malformation (4th ventricle enlarged with no outlets)
    Chiari malformation (cerebellar tonsils displaced down through foramen magnum)
  • Acquired aqueduct stenosis
    IVH
    Tumour

Communicating / Non-obstructive:
(flow of CSF disrupted after it exits the ventricles / failure to reabsorb)

  • Meningitis
  • SAH
  • Rarely choroid plexus tumour (increases CSF production)
66
Q

What are the S/S of hydrocephalus?

A

Acute = vomiting, irritable, impaired consciousness
Chronic = FTT, developmental delay

Other:

  • Increased head circumference
  • Tense fontanelle
  • Increased tone
  • Papilloedema
  • Ataxic gait
  • 6th nerve palsy
  • Sunset sign = eyes appear to be driven down bilaterally
67
Q

What are the investigations for hydrocephalus?

A

CT-head (1st line) = dilation of ventricles, any tumours or cysts present

MRI = greater detail

Measure head circumference

LP = diagnostic and therapeutic > NOT in obstructive

68
Q

What is the management of hydrocephalus?

A

Ventriculo-peritoneal shunt (1st line):

  • Long-term CSF diversion technique
  • May fail due to blockage/infection

External ventricular drain (EVD)

  • Used in acute, severe hydrocephalus

Obstructive

  • May require surgical removal of obstructing pathology

Medical

  • Furosemide (inhibits CSF production)
69
Q

What are the features of a migraine headache?

A
  • Severe / throbbing
  • Associated with nausea, photophobia and phonophobia
70
Q

How do migraines in children differ from those in adults?

A
  • Attacks are shorter lasting
  • Headache more commonly bilateral
  • GI disturbance more prominent
71
Q

What are the S/S of a migraine?

A

Without aura (90%):

  • 1-72hrs
  • Pulsatile
  • GI sx
  • Worse with physical activity

With aura (10%):

  • Visual, sensory, motor > characterised by transient hemianopia disturbance or a spreading scintillating scotoma
  • Maybe no headache
  • 5-60 minutes
  • FHx, trigger
72
Q

What are common triggers for migraines?

A
  • Tiredness, stress
  • COCP
  • Alcohol
  • Lack of food, dehydration
  • Cheese, chocolate, red wines, citrus fruits
  • Menstruation
  • Bright lights
73
Q

What are the investigations for migraines?

A

Good hx and examination
Imaging not needed unless red flag sx

74
Q

What is the management for migraines?

A

Education:

  • Headaches are common
  • No long-term harm

Acute:

  • 1st line = analgesic e.g. paracetamol, ibuprofen
    Adjunct = anti-emetic e.g. cyclizine
  • 2nd line = 5-HTI agonist e.g. sumatriptan nasal, rizatriptan
    Adjunct = ibuprofen

Ongoing / Prophylaxis:

  • 1st line = propranolol or pizotifen
  • 2nd line = topiramate
75
Q

What are tics?

A

Fast, repetitive muscle movements that result in sudden and difficult to control body jolts or sounds

76
Q

What is Tourettes?

A

Chronic and multiple tics (must begin before 18yrs and persist for over 1yr)

No cure

77
Q

When do tics start occurring?

A

Appear around 5yrs, most disappear by adulthood
Common, usually not serious

78
Q

What are the S/S of tics?

A
  • Bought about by triggers
  • Focussing on them can make it worse

Types:

  • Motor
  • Vocal
  • Phonic e.g. blinking, coughing, grunting, clicking fingers, repeating sound of phrase
79
Q

What is the management for tics?

A

Self-help:

  • Sleep and stress management
  • Don’t tell child off for it / draw attention to it

Habit reversal therapy:

  • Learn movements to ‘compete’ with tics so tics can’t happen at same time

Exposure with response prevention (ERP):

  • Help the child get used to the unpleasant sensations that are often felt before a tic, can stop the tic occurring

Mediations:

1st line = antipsychotics e.g. risperidone
2nd line = clonidine, clonazepam, tetrabenazine, botulinum toxin

Surgery:

  • Deep brain stimulation therapy (severe Tourette’s)
80
Q

What are DMD and BMD ?

A

X-linked recessive degenerative muscle disorders characterised by progressive muscle weakness and wasting of variable distribution and severity

81
Q

What is the difference between DMD and BMD?

A

DMD: Rapidly progressive form (more common).
BMD: Slowly progressive form.

82
Q

What are the S/S of DMD?

A

Sx onset 1-3yrs:

  • Developmental / language delay
  • Waddling gait
  • Toe-walking
  • Difficulty running, climbing stairs, getting up from seated/lying position
  • Decreased power/tone
  • Gower’s sign = uses arms to stand up from squatted position
  • Pseudohypertrophy of calves (replacement of muscle fibres by fat and fibrous tissue)
  • Primary dilated cardiomyopathy

Dx at 5yrs:

  • No longer ambulant by ~10yrs
  • Braces required for walking > wheelchair
  • Medial LE 35yrs
83
Q

What cardiac pathology is associated with DMD?

A

Dilated cardiomyopathy

84
Q

What are the S/S of BMD?

A

Sx onset ~10yrs
Less severe and progresses at slower rate
Walk into 40/50s then require wheelchair

85
Q

What are the investigations for DMD/BMD?

A

Bloods = increased creatinine kinase from birth (myofiber necrosis)

Genetic testing = definitive dx (replaced biopsy)

Lung function = decreased VC leads to hypoventilation and atelectasis

86
Q

What is the management for DMD/BMD?

A

NO CURE > mx to alleviate sx

Conservative:

  • Education
  • Special school for children with physical disabilities and/or learning difficulties
  • Genetic counselling - female family members
  • Support and counselling for parent and child

Medical:

  • Oral glucocorticoids (improve muscle strength)
  • Early aggressive mx of cardiomyopathy
  • CPAP (resp care and assisted respiration may be required at later stage)
  • Usual immunisation + pneumococcal and influenza
  • Prophylactic abx for children with low VC

OT/PT:

  • Moderate physical exercise
  • Mobility aids
  • Night splints
  • Braces / spinal support
  • Help swallowing difficulties
  • Resp therapy for breathing issues
  • Behaviour therapy for cognitive function
87
Q

What is myotonic dystrophy?

A

Autosomal dominant disorder characterised by progressive muscle wasting and weakness.

  • Often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use
  • For example, a person may have difficulty releasing their grip on a doorknob or handle
88
Q

What is the onset and LE of myotonic dystrophy?

A

Onset ~20-30yrs
Varied LE > neonatal death to normal LE

89
Q

What are the genetic features of myotonic dystrophy?

A
  1. Genetic defect = trinucleotide repeat
  2. Genetic anticipation (disease has earlier onset / increased severity in successive generations)
90
Q

What are the types of myotonic dystrophy?

A

DM1: Chr19, distal weakness more prominent.

DM2: Chr3, proximal weakness more prominent, severe congenital form not seen.

91
Q

What are the S/S of myotonic dystrophy?

A

Severity depends on number of CTG repeats > ranges from unaffected to severe

  • Muscles contract and are unable to relax
  • Progressive muscle loss and weakness (smaller muscles > larger muscles)
  • Myotonic facies (long, ‘haggard’ appearance)
  • Frontal balding
  • Bilateral ptosis
  • Cataracts
  • Dysarthria
  • Abnormal intellectual functioning
  • DM
  • Testicular atrophy
  • Cardiac involvement > heart block, cardiomyopathy
  • Dysphagia
92
Q

What are the investigations for myotonic dystrophy?

A
  • Bloods = CPK may be raised
  • Muscle biopsy
  • EMG = characteristic ‘dive bomber’ sound
  • Genetic testing = definitive diagnosis > DNA mutation analysis
93
Q

What is the management for myotonic dystrophy?

A
  • PT = strength and flexibility training
  • SALT
  • OT = specially designed utensils for head weakness, wrist braces
  • Medical= quinine or procainamide for myotonia, support for resp/GI problems
  • Surgical = cataract operations
  • Orthopaedic = ankle-foot arthroses for foot-drop
  • Genetic counselling
  • Psychological support
94
Q

What is NF1 / von Recklinghausen Disease?

A

Autosomal dominant disorder caused by a gene mutation on chr17 which encodes for tumour suppressor protein neurofibromin

95
Q

What is NF2?

A

Causes tumours to grow on nerves that transmit sound and balance information from inner ear to brain

  • More internal/hidden signs (less common, presents in adolescence)
  • Bilateral acoustic neuromas +/- deafness
  • Cerebellopontine angle syndrome with facial nerve paresis and cerebellar ataxia
96
Q

What is NF1 associated with?

A
  • MEN2
  • Pulmonary HTN
  • Phaeochromocytoma
  • RAS with HTN
97
Q

What is the diagnostic criteria for NF1?

A

Need 2 or more of the following to dx:

  • 6 or more café-au-lait spots (>5mm pre-puberty, >15mm post-puberty)
  • > 1 neurofibroma (firm, nodular overgrowth of nerve)
  • Axillary freckles
  • Optic glioma +/- visual impairment
  • Lisch nodule > hamartoma of iris (on slit-lamp exam)
  • Bony lesions from spheroid dysplasia +/- eye protrusion
  • First degree relative with NF1
98
Q

What are the investigations for NF1?

A

Slit-lamp examination = Lisch nodules
MRI/CT = glial nodules

99
Q

What is the management for NF1?

A

No treatment to reverse NF1 > treat S/S

Medical:

  • Regular follow-up for monitoring BP
  • Ophthalmology assessment
  • Testing of 8th nerve and skeletal complications

Surgical:

  • Laser removal of nodules
  • Orthopaedic or neurosurgical intervention

Genetic counselling:

  • Antenatal dx with amniocentesis/CVS

Educational:

  • Support
100
Q

What is Tuberous Sclerosis?

A

Rare autosomal dominant neurocutaneous syndrome that causes benign tumours to develop in different parts of the body

101
Q

What are the cutaneous S/S of tuberous sclerosis??

A
  • Depigmented ‘ash-leaf’ spots which fluoresce under UV light
  • Shagreen patches (roughened patches of skin over lumbar spine)
  • Angiofibroma’s (adenoma sebaceum > butterfly distribution over nose)
  • Subungual fibromata (fibromata beneath nails)
  • Café-au-lait spots may be seen
102
Q

What are the neurological S/S of tuberous sclerosis?

A
  • Infantile spasms / epilepsy
  • Developmental delay
  • Intellectual disability (often with ASD)
103
Q

What are the non cutaneous/neuro S/S of tuberous sclerosis?

A
  • Retinal hamartomas (dense white area on retina)
  • Rhabdomyomas of the heart
  • Gliomatous changes can occur in the brain lesions
  • Polycystic kidneys
  • Renal angiomyolipomata
  • Multiple lung cysts
104
Q

What are the investigations for tuberous sclerosis?

A

CT = calcified subependymal nodules and tubers from 2yrs
MRI = more sensitive, clearly identified other tubers and lesions

105
Q

What is the management for tuberous sclerosis?

A
  • Antiepileptics
  • Antihypertensives
  • Neurosurgical intervention
106
Q

What is Sturge-Weber Syndrome?

A

A rare, neurological disorder present at birth and characterized by a port-wine stain birthmark (haemangiomatous facial lesion in distribution of the trigeminal nerve)

107
Q

What are the S/S of Sturge-Weber Syndrome?

A
  • Port-wine stain
  • Epilepsy
  • Contralateral hemiplegia
  • Phaeochromocytoma
  • Intellectual disability
  • Glaucoma

Lesion intracranially = ipsilateral leptomeningeal angioma
Ophthalmic division of trigeminal nerve always involved

108
Q

What are the investigations for Sturge-Weber Syndrome?

A

MRI
(Used to use XR > ‘rail-road’ track sign)

109
Q

What is somatisation?

A

Abdominal pain of sufficient severity to interfere with daily activities without demonstratable evidence of pathological condition

110
Q

What are the causes of somatisation?

A

Communication of emotional distress, troubled relationships, and personal predicaments

111
Q

What are the S/S of somatisation?

A

Recurrent abdominal pain:

  • Peak 9yrs
  • Sharp and colicky
  • Apley’s rule = further pain is from umbilicus, more likely pain is of organic nature

Recurrent headaches:

  • Peak 12yrs

Limb pain, aching muscles, fatigue, neurological sx

  • > 12yrs
112
Q

What are the investigations for somatisation?

A

=Dx of exclusion

Full physical examination
Full, detailed hx (especially social) > can be done alone (no parents), reports from school useful

113
Q

What is the management for somatisation?

A

1st line:

  • Promote communication between family and child (and school if necessary)
  • Pain-coping skills i.e. relaxation techniques for headaches

2nd line:

  • Referral to CAMHS
    (If 1st line fails or serious family dysfunction / impaired general functioning)
114
Q

What is developmental delay?

A

When it takes longer to reach developmental milestones than would be expected for children at their age

115
Q

What are the causes of developmental delay?

A
  • Genetic = cerebral palsy, DS
  • Epilepsy
  • Infection
  • Malabsorption disorders = coeliac, IBD
  • Metabolic causes = hypothyroidism
  • Autism, ADHD, learning disabilities
  • Eating disorders, depression and anxiety
116
Q

What are the S/S of developmental delay?

A

Isolated developmental delay in one domain or Global delay

FHx of developmental delay syndromes
Dysmorphic features

117
Q

What are the investigations for developmental delay?

A
  • Metabolic, genetic, infection screen
  • Autism/ADHD screen
  • IQ testing
118
Q

What is the management of developmental delay?

A

MDT approach:

  • SALT, OT, PT, family counselling, behavioural intervention, educational assistance

Manage associated conditions

119
Q

What is an abdominal migraine?

A

Intense umbilical pain which interferes with daily activities, at least twice in 12m, and at least 2 of: anorexia, N/V, photophobia, pallor, headache

Paeds (18 decks)

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