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Neurology and Mental Health Flashcards

1
Q

Define Somatisation.

A

Communication of emotional distress, troubled relationships, and personal predicaments through bodily symptoms.

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2
Q

What are the signs and symptoms of somatisation?

A
  • Recurrent abdominal pain (peak age 9yo) → sharp and colicky
    • Affects 10% of school-aged children
    • Majority of cases have no organic cause
    • Apley’s rule → “the further the pain from the umbilicus, the more likely the pain is of an organic nature”
  • Recurrent headaches (peak age 12yo)
  • Limb pain
  • Aching muscles
  • Fatigue
  • Neurological symptoms (>12yo)
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3
Q

What are the appropriate investigations for somatisation?

A

Diagnosis of exclusion

  • Full physical examination
  • Full, detailed history (especially social) → school, friends and family, timeline of pain
    • Can be done alone (no parents)
    • Reports from school can be useful
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4
Q

What is the management of somatisation?

A
  • 1st line
    • Promote communication between family and child (and school if necessary)
    • Pain-coping skills → i.e. relaxation techniques
  • 2nd line (if 1st line fails or serious family dysfunction / impaired general functioning)
    • Referral to CAMHS
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5
Q

What is a breath-holding attack?

A

Toddler is upset/angry/frustrated → cries and holds breath → goes blue, lose consciousness and goes limp

  • Attacks resolve spontaneously
  • Drug therapy unhelpful - manage with behaviour modification and distraction
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6
Q

What is a reflex anoxic seizure?

A

Episodes due to cardiac asystole due to vagal inhibition → child becomes pale and falls to floor ± general tonic clonic fitting → brief seizure and rapid recovery

  • Triggers = pain, head trauma, cold food, fright, fever
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7
Q

Define Febrile Convulsion.

A

A seizure and fever in the absence of intracranial infection → 6m to 3yo - shouldn’t occur in older children

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8
Q

What are the signs and symptoms of febrile convulsion?

A

Brief, generalised tonic-clonic seizure on background of fever

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9
Q

What are the chances of epilepsy following a febrile convulsion?

A
  • Simple febrile seizure = No brain damage → No increases risk of epilepsy
  • Complex febrile seizures → focal, >15 minutes, repeated in same illness = Increased risk 4-12% of subsequent epilepsy
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10
Q

What are the appropriate investigations following a seizure?

A
  • Identify any cause - if indicated
    • Screen for meningitis/encephalitis
    • Urine MC&S if infection source unclear
    • Blood glucose
  • Temperature - febrile convulsion
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11
Q

What is the management immediately after a febrile seizure?

A
  • Admission for
    • First febrile seizure
    • <18 months old
    • Diagnostic uncertainty surrounding the cause
    • Complex febrile / Status epilepticus
    • Currently on Abx
  • Parental Education
    • Not the same as epilepsy
      • Simple = no further risk of epilepsy
      • Complex = slightly increased risk of epilepsy
    • 33-50% will have another febrile convulsion
      • If recurrent = educate on how to give medication
    • Continue routine immunisations
    • Regular paracetamol and ibuprofen
    • Do not try and cool the child
    • Adequate fluid intake
    • Seek advice if prolonged fever
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12
Q

Define Epilepsy.

A

A disease characterised by an enduring predisposition to generate epileptic seizures and by the neurobiological, cognitive, psychological and social consequences of the condition.

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13
Q

Define Seizure.

A

Transient occurrence of signs or symptoms due to abnormal excessive or synchronous activity in the brain.

  • Focal / Partial = start in one part of the brain
  • Generalised = more distributed, affect both hemispheres of the brain
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14
Q

What are the risk factors for epilepsy?

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

What is important to classify during a seizure?

A
  • Where seizures begin in the brain
    • Focal
    • Generalised
    • Focal to bilateral
    • Unknown
  • Level of awareness
    • Focal aware (awareness intact)
    • Focal impaired
    • Awareness unknown (unwitnessed)
    • Generalised (presumed to affect awareness)
  • Other features of seizure
    • Focal onset:
      • Motor onset → twitching, jerking, stiffening, automatisms
      • Non-motor → cognitive, emotional, sensory
    • Generalised onset:
      • Motor → tonic (stiffening) and clonic (jerking) = “Grand Mal”
      • Non-motor → absence, brief changes in awareness ± automatic/repeated movements
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16
Q

What are the signs and symptoms of absence seizures?

A
  • Brief impairment of consciousness - 5-10 seconds
  • Behavioural arrest or staring → interrupts normal activity
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17
Q

What are the signs and symptoms of tonic-clonic seizures?

A
  • Patient falls unconscious ± Preceding aura
  • Violent muscle contractions and shaking
    • Eyes may roll back
    • Tongue biting
    • Incontinence
  • Post-ictal phenomena
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18
Q

What are the signs and symptoms of myoclonic seizures?

A
  • Brief arrhythmic muscular jerking movements
  • Last a few seconds, sudden jerking or twitching
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19
Q

What is Benign Rolandic epilepsy?

A
  • Seizures of face / upper limbs during sleep with hypersalivation and speech arrest → AKA Sylvian seizures
  • Affects children aged 3-12yo seizures – outgrown at end of puberty
  • Most common childhood epilepsy
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20
Q

What is Juvenile myoclonic epilepsy?

A
  • Seizures usually involving neck, shoulders, upper arms, most occur after waking up
  • Begin around puberty - 12-18yo
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21
Q

What is Progressive myoclonic epilepsy?

A
  • Rare syndromes that combines myoclonic and tonic-clonic
  • Patient deteriorates over time
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22
Q

What is the management of epilepsy?

A
  • MDT management - paediatrician, neurologist, epilepsy nurse, school nurse, GP
  • Referral to Neurologist after 1st fit - for advice
    • How to recognise a seizure
    • Video record future seizure
    • Avoid dangerous activities (i.e. swimming)
    • Seek help if another seizure before referral
  • Appropriate Antiepileptic Drug Choice
    • Not all children will require antiepileptics - risk vs reward
    • Appropriate AED for seizure and epilepsy type - some make the seizures worse
      • Lamotrigine → exacerbate myoclonic seizures
      • Carbamazepine → exacerbate absence seizures
    • Monotherapy at lowest dose
    • Rescue therapy for prolonged epileptic seizures (convulsive with loss of consciousness >5 minutes)
      • Buccal midazolam
    • AED therapy may be discontinued after 2 years free of seizures
    • Generalised
      • Tonic-Clonic = Valproate
        • 2nd line = lamotrigine, carbamazepine, oxcarbazepine
      • Absence = Valproate or Ethosuximide
        • 2nd line = lamotrigine
      • Myoclonic = Valproate
        • 2nd line = levetiracetam, topiramate
    • Focal = Carbamazepine or Lamotrigine
      • 2nd line = levetiracetam, oxcarbazepine, valproate
  • Intractable epileptics
    • Ketogenic diets
    • Vagal nerve stimulation
    • Surgery → if well-localised structural cause
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23
Q

What are the sides effects of valproate?

A
  • Weight gain
  • Hair loss
  • Rare idiosyncratic liver failure
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24
Q

What are the sides effects of carbamazepine?

A
  • Rash
  • Neutropoenia
  • Hyponatraemia (SIADH)
  • Ataxia
  • Inducer
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25
Q

What are the sides effects of lamotrigine?

A

Steven-Johnson syndrome

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26
Q

What are the sides effects of levetiracetam?

A

Sedation - rare

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27
Q

Define Status Epilepticus.

A
  • 1 epileptic seizure lasting >5 minutes
  • ≥2 seizures within a 5-minute period without the person returning to normal between them
  • 1 febrile seizure lasting >30 minutes
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28
Q

What is the management of status epilepticus?

A
  1. High-flow oxygen and Glucose
  2. 5 mins = IV Lorazepam or buccal Midazolam or recatl Diazepam
  3. 15 mins = IV Lorazepam + Call for senior help + Prepare Phenytoin
  4. 25 mins = ICU advice + Phenytoin (if already on = phenobarbitone) + Consider rectal Paraldehyde
  5. 45 mins = Rapid Sequence Induction of Anaesthesia with Thiopental/Thiopentone
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29
Q

What are the signs and symptoms of an extradural haemorrhage?

A
  • Lucid interval followed by deterioration of consciousness and seizures
  • Potential focal neurological signs
    • Dilatation of ipsilateral pupil
    • Paresis of contralateral limb
    • Anaemia
    • Shock
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30
Q

What are the signs and symptoms of skull fracture?

A

Associated with tear of middle meningeal artery

  • Battle sign
  • Racoon eyes
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31
Q

What are the appropriate investigations for a suspected extradural haemorrhage?

A

CT Head

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32
Q

What is the management of an extradural haemorrhage?

A
  • Fluid resuscitation → correct hypovolemia
  • Evacuation of haematoma and arrest bleeding = Neurosurgery
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33
Q

What are the signs and symptoms of subdural haemorrhage?

A
  • Gradually decreasing GCS
    • No lucid interval → just gradually decreasing
  • Potential retinal haemorrhages
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34
Q

What is associated with subdural haemorrhage?

A

Characteristically NAI with shaking of a baby or direct trauma

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35
Q

What are the signs and symptoms of subarachnoid haemorrhage?

A
  • Acute onset head pain
  • Neck stiffness
  • Fever
  • Seizures or coma
  • Rare in children → causes is often aneurysm or AVM
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36
Q

What are the appropriate investigations for suspected subarachnoid haemorrhage?

A
  • Head CT
  • Avoid LP → increased ICP
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37
Q

What is the management of subarachnoid haemorrhages?

A

Neurosurgery or Interventional radiology

38
Q

Define Developmental Delay.

A

Taking longer to reach developmental milestones than would be expected for children their age.

39
Q

What are the causes of developmental delay?

A
  • Genetics – Cerebral palsy, Down’s syndrome
  • Epilepsy
  • Infection
  • Malabsorption disorders / Eating disorders – coeliac, IBD
  • Metabolic causes – hypothyroidism
  • Learning difficulties – Autism, ADHD, learning disabilities
  • Depression & anxiety
40
Q

What are the signs and symptoms of developmental delay?

A
  • Isolated developmental delay in one domain
  • FHx of delay/syndrome
  • Global delay
  • Dysmorphic features
41
Q

What are the appropriate investigations for suspected developmental delay?

A
  • Metabolic, genetic, infection screen
  • IQ test
  • ASD or ADHD testing
42
Q

What is the management of developmental delay?

A
  • MDT – SALT, OT, PT, family counselling, behavioural intervention, educational assistance
  • Manage associated conditions
  • Prognosis → usually good if isolated but global delay has high association with syndromes with poor prognosis
43
Q

What are the types of muscular dystrophy?

A
  • Duchenne - most common
  • Becker
  • Myotonic
44
Q

What is the pathophysiology of Duchenne muscular dystrophy?

A
  • X-linked recessive - mainly affects males
  • 1/3rd have de novo mutations though
  • Deletion of dystrophin gene
    • Connects cytoskeleton of muscle fibres to ECM through cell membrane
    • Where deficient → influx of Ca2+ → calmodulin breakdown → excess free radicals → myofibre necrosis
45
Q

What are the signs and symptoms of Duchenne muscular dystrophy?

A
  • Symptoms start at 1-3yo → 5yo diagnosis → no longer ambulant by 10yo → medial life expectancy 35yo
  • Developmental delay - persistent waddling gait, language delay
    • Toe-walking
    • Mount stairs one-at-a-time
    • Decreased tone and power
    • Run slowly, tire quickly
  • Affects larger muscle > smaller muscles
  • Gower’s sign → the need to turn prone to rise
  • Pseudohypertrophy of calves - replacement of muscle fibres by fat and fibrous tissue
  • Primary dilated cardiomyopathy
46
Q

What are the appropriate investigations for suspected Duchenne muscular dystrophy?

A
  • Clinical history and examination
  • Plasma Creatine kinase phosphate = elevated – due to myofibre necrosis
  • EMG
  • Genetic testing
  • Biopsy
47
Q

What are the signs and symptoms of Becker muscular dystrophy?

A
  • Same signs and symptoms as DMD but often less severe and progresses at a slower rate
    • Learn to walk a little later than usual
    • Muscle cramps after exercise
    • Struggle with sports at school
    • As they age, they struggle with lifting objects
    • Can walk into their 40s and 50s but then require a wheelchair
  • Developmental delay - persistent waddling gait, language delay
    • Toe-walking
    • Mount stairs one-at-a-time
    • Decreased tone and power
    • Run slowly, tire quickly
  • Gower’s sign → the need to turn prone to rise
  • Pseudohypertrophy of calves - replacement of muscle fibres by fat and fibrous tissue
  • Primary dilated cardiomyopathy
48
Q

What is the management of Duchenne muscular dystrophy?

A

No cure, often management is to alleviate the symptoms:

  • Physiotherapy → to clear lungs
  • Exercise → help prevent contractures
  • Psychological support
  • Medical:
    • CPAP → weakness of intercostal muscles can cause nocturnal hypoxia → daytime headache, irritability, etc.
    • Glucocorticoids → delay need for wheelchair
    • Cardioprotective drugs (carvedilol) → preservation of left ventricular ejection fraction
  • Surgery (PRN):
    • Tendoachilles lengthening
    • Scoliosis surgery
49
Q

What is the pathophysiology of Myotonic muscular dystrophy?

A
  • Autosomal dominant trinucleotide repeat disorder
  • Genetic anticipation → gets worse/earlier onset as the gene is passed down generations
  • Varied life expectancy - from death at neonatal age in severe forms to normal life expectancy
50
Q

What are the signs and symptoms of myotonic muscular dystrophy?

A
  • Most common adult-onset (20s to 30s) muscular dystrophy
  • Muscles contract and are unable to relax
  • Progressive muscle loss and weakness - smaller muscles > larger muscles - reverse of Duchenne’s
  • Cataracts
  • Heart problems
  • Abnormal intellectual functioning
  • Myotonia
51
Q

Name some trinucleotide repeat disorder?

A
  • Fragile X (CGG)
  • Huntington’s (CAG)
  • Myotonic dystrophy (CTG)
  • Friedreich’s ataxia (GAA)
  • Spinocerebellar ataxia
  • Spinobulbar muscular atrophy
  • Dentatorubral pallidoluysian atrophy
52
Q

What are the causes of infantile spasm (west syndrome)?

A
  • Symptomatic (any disorder causing brain damage)
  • Prenatal conditions
  • Genetic syndromes
  • Hypoxic/ischaemic/trauma brain damage
  • Congenital infections
  • Idiopathic
53
Q

What are the signs and symptoms of infantile spasm?

A
  • Spasms – sudden, rapid, tonic contraction of trunk and limb muscles with gradual relaxation over 0.5-2 seconds
    • “Salam attacks” – head goes down and arms go up in the air
    • Looks like ‘colic’
    • Contractions last 5-10 seconds
    • From gentle nodding of the head to powerful movements of the body
    • Occur in clusters, usually associated with waking or before sleeping
  • Psychomotor delay
  • Hyperpigmented skin lesions
  • Growth restriction
  • Peak incidence at 3-8 months
54
Q

What are the appropriate investigations for suspected infantile spasm?

A

EEG → hypsarrhythmia– disordered activity in the brain

55
Q

What is the management of infantile spasm?

A
  • Vigabatrin
  • Corticosteroids
  • Poor prognosis
56
Q

What is the cause / aetiology of vasovagal syncope?

A
  • Emotional
    • Fear
    • Pain
    • Shock
    • Sudden sounds or sights
  • Orthostatic
    • Prolonged standing
    • Crowds
    • Hot
57
Q

What are the signs and symptoms of vasovagal syncope?

A
  • Brief LOC
  • Spontaneous recovery
  • No signs of seizure activity
  • Link to trigger
58
Q

What are the appropriate investigations for suspected vasovagal syncope?

A
  • Lying and standing BP with ECG if indicated (i.e. query cardiac cause)
  • FBC (rule out anaemia ± bleeding)
59
Q

What is the management of vasovagal syncope?

A
  • Avoid triggers
  • Lie down flat to avoid fainting
60
Q

What is the grading system for intraventricular haemorrhage?

A
  • Grade I – bleeding just in germinal matrix → most common; no further complications
  • Grade II – intraventricular bleeding (but no enlargement)
  • Grade III – intraventricular bleeding with enlargement ventricles
  • Grade IV – bleeding extends into brain tissue around ventricles
    • Grade I and II are more common and have no complicsations
    • Grade III and IV can lead to long-term brain injury
      • Blood clots can form which can lead to secondary hydrocephalus
      • 50% with progressive post-haemorrhagic ventricular dilatation → cerebral palsy in later life
61
Q

What is periventricular leukomalacia?

A

Bilateral multiple cysts

  • 80-90% risk of spastic diplegia - Cerebral Palsy
  • Periventricular white matter damage → difficult to detect → if cystic lesions become evident 2-4w later on USS, there is a definite loss of white matter
62
Q

What are the causes of intraventricular haemorrhage in neonates?

A
  • More often in premature babies due to VLBW and LBW
  • ECMO in preterm babies with severe RDS
  • Congenital CMV infection
63
Q

What are the signs and symptoms of intraventricular haemorrhage?

A
  • Sleepiness
  • Lethargy
  • Apnoea
  • Reduced/absent Moro reflex
  • Low tone
  • Tense fontanelle
64
Q

What are the appropriate investigations for suspected intraventricular haemorrhage?

A

Trans-fontanelle USS

65
Q

What is the management of intraventricular haemorrhage?

A
  • Fluid replacement
  • Anticonvulsant
  • Acetazolamide (reduce CSF) ± LP
  • Ventriculo-peritoneal Shunt (if hydrocephalus)
66
Q

What are the types of hydrocephalus?

A
  • Communicating → flow of CSF is obstructed after it exits the ventricles
    • Meningitis (pneumococcal, TB)
    • SAH
  • Non-communicating → flow of CSF is obstructed within the ventricles
    • Congenital → Aqueduct stenosis (often of cerebral aqueduct (3rd to 4th ventricles) blocked)
      • Dandy-Walker malformation (4th ventricle enlarged with no outlets)
      • Chiari malformation (cerebellar tonsils displaced down through foramen magnum)
    • Acquired → Aqueduct stenosis
      • IVH (preterm infants; grade 3 or 4)
      • Tumour
67
Q

What are the signs and symptoms of hydrocephalus?

A
  • Acute
    • Vomiting
    • Irritable
    • Impaired consciousness
  • Chronic
    • FTT
    • Developmental delays
  • Increased head circumference
  • Sunset sign – eyes appear to be driven down bilaterally
  • Tense fontanelle
  • Increased tone
  • Papilloedema
  • Ataxic gait
  • 6th nerve palsy
68
Q

What are the appropriate investigations for suspected hydrocephalus?

A
  • Cranial USS
  • Measure head circumference
69
Q

What is the management of hydrocephalus?

A
  • 1st line = Ventriculoperitoneal shunt
    • May require removal of obstruction
    • Sometimes, endoscopic treatment to create a ventriculostomy is performed
  • Medical = Furosemide (inhibit CSF production)
70
Q

What counts as episodic and chronic migraines?

A
  • Episodic = <15 days/month
  • Chronic = ≥15 days/month
71
Q

What are the signs and symptoms of tension headaches?

A
  • Symmetrical headache
  • Gradual onset
  • “Tight band”
72
Q

What are the signs and symptoms of migraines?

A

Without aura = 90% migraines
Aura = 10% migraines:

  • Without aura
    • 1-72hrs
    • Bilateral or unilateral
    • Pulsatile temporal
    • GI symptoms
    • Worse with physical activity
  • With aura
    • Aura → visual, sensory or motor
    • Few hours
    • FHx
    • Trigger (stress, foods)
    • Maybe no headache
  • FHx of migraine
73
Q

What are the signs and symptoms of cluster headaches?

A
  • Unilateral (eye, side of face)
  • Sharp/burning/throbbing - suicide headache
  • Watery/swollen eye/face
  • Occur in clusters
74
Q

What are the signs and symptoms of secondary headaches?

A
  • Visual field defects
  • Gait or cranial nerve abnormalities
  • Growth failure
  • Papilloedema
75
Q

What are the appropriate investigations for headaches?

A

None → unless a red flag symptom

76
Q

What is the management of headaches?

A
  • Medical education:
    • Headaches are common
    • No long-term harm
  • Medications
    • Analgesia - ibuprofen > paracetamol
    • Anti-emetics:
      • 6+ = cyclizine
      • 12+ = prochlorperazine, metoclopramide
        • 2nd line: codeine phosphate
    • Serotonin 5HT1 agonists
      • 12+ = triptans (sumatriptan)
77
Q

What is the specific management of migraines?

A
  • Assess the severity and frequency of attacks, and the impact on the patient’s life
  • Identify cause → emotional problems, general health, etc.
    • Consider headache diary (8 weeks)
    • Optician referral
    • Consider psychiatry referral
    • Weight, height, BP
  • Acute Management (in 12-17-year olds):
    • Step 1: Simple analgesia
    • Step 2: Nasal sumatriptan - oral cannot be used in people <18yo
    • Step 3: Combination nasal triptan and NSAID/paracetamol
      • Consider anti-emetics
      • Follow-up in 1 month
  • Prophylaxis:
    • Topiramate (risk of foetal malformations)
    • Propranolol (not in asthmatics)
78
Q

What are Tic’s.

A

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

  • Common, appear around 5yo, not usually serious, most disappear by adulthood
    • May come and go over several years
    • 1 in 3 won’t have tics as an adult, 1 in 3 have mild tics, 1 in 3 will have severe tics
79
Q

What psychiatric conditions are associated with tic’s?

A

OCD and ADHD

80
Q

What is Tourette’s?

A

Chronic and multiple tics → no cure

  • Tics must begin before 18yo
  • Must persist for longer than 1 year
  • Exclude any other cause
81
Q

What are the signs and symptoms of a tic disorder?

A
  • Brought about by triggers → focussing on them can make them worse
  • Different types
    • Blinking
    • Clicking fingers
    • Coughing / Grunting
    • Repeating sound or phrase
82
Q

What is the management of tic disorders?

A
  • Self-help - sleep and stress management, don’t draw attention to tic, don’t tell child off for it
  • Habit reversal therapy - learn movements to “compete” with tics, so tics can’t happen at the same time
  • Exposure with response prevention / ERP - help the child get used to the unpleasant sensations
  • Medications:
    • 1st line = antipsychotics
    • 2nd line
      • Clonidine – treat tics and ADHD at the same time
      • Clonazepam
      • Tetrabenazine – treats tics that are caused by an underlying condition (i.e. Huntington’s)
      • IM Botulinum toxin – only last <3m
    • Surgery = deep brain stimulation therapy (for severe Tourette’s syndrome)
83
Q

Describe Neurofibromatosis Type 1.

A
  • Autosomal Dominant Mutation in NF1 gene – 50% are a de novo mutation
  • High penetrance with variable expression
  • 1 in 3,000 live birth
84
Q

What is the difference between neurofibromatosis type 1 and 2?

A
  • Like NF1 but more internal/hidden signs
  • Less common
  • Presents in adolescence
  • Bilateral acoustic neuromas ± Deafness
  • Cerebellopontine angle syndrome with facial nerve paresis
  • Cerebellar ataxia
85
Q

What conditions are associated with neurofibromatosis?

A
  • MEN2
  • Phaeochromocytoma - VHL, MEN2
  • Pulmonary HTN
  • RAS with HTN
86
Q

What are the signs and symptoms of neurofibromatosis type 1?

A
  • ≥6 café au lait spots - >5mm pre-puberty, >15mm post-puberty
    • Cutaneous features more prominent after puberty
  • >1 neurofibroma – firm nodular overgrowth of nerve
  • Axillary freckles
  • Optic glioma ± visual impairment
  • One Lisch nodule – hamartoma of iris (on slit-lamp exam)
  • Bony lesions from spheroid dysplasia ± eye protrusion
  • First degree relative with NF1
87
Q

Describe Tuberous Sclerosis.

A

Rare genetic condition causing mainly benign tumours to develop in different parts of the body

  • Genetic mutation in TSC1 or 2 genes
  • 1 in 9,000, AD → 70% new mutations
88
Q

What are the signs and symptoms of tuberous sclerosis?

A
  • Cutaneous
    • Woods lamp → Ash patch
    • Shagreen patches
    • Angiofibromata
  • Neurological
    • Infantile spasms
    • Developmental delay
    • Epilepsy
    • Intellectual disability → often with ASD
    • Nodules → subependymal giant cell astrocytoma → non-communicating hydrocephalus
  • Subungual fibromata
  • Dense white areas on retina
  • Rhabdomyomata of heart
  • Angiomyolipoma
89
Q

What are the appropriate investigations for suspected tuberous sclerosis?

A
  • CT scan → calcified subependymal nodules and tubers from 2+ years
  • MRI
90
Q

What is Sturge-Weber syndrome?

A

Sporadic haemangiomatous facial lesion (port-wine stain) disorder in distribution of the trigeminal nerve

  • Lesion intracranially = ipsilateral leptomeningeal angioma
  • Ophthalmic division of trigeminal nerve always involved
91
Q

What are the signs and symptoms of Sturge-Weber syndrome?

A
  • Haemangiomatous facial lesion (port-wine stain)
  • Epilepsy (may benefit from hemispherotomy)
  • Intellectual disability
  • Contralateral hemiplegia
  • Glaucoma (50%)
  • Phaeochromocytoma
92
Q

What are the appropriate investigations for suspected Sturge-Weber syndrome?

A

MRI

a Paediatrics by themes (26 decks)

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