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Neurocutaneous syndromes Flashcards

1
Q

What are neurocutaneous syndromes?

A
  1. Causes problems that affects the brain, spine and nerves (neuro) and the skin (cutaneous)
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2
Q

Describe tuberous sclerosis (2)

A
  1. Complex hereditary disorder

2. Causes abnormal growths/benign tumours in the brain, skin and sometimes in vital organs (heart, kidney, lungs)

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3
Q

Are the tumours of tuberous sclerosis usually benign or malignant?

A

Benign

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4
Q

When does tuberous sclerosis begin?

A
  1. Usually present at birth but symptoms may be subtle/take time to develop
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5
Q

What is the prevalence of tuberous sclerosis?

A

1/6000 children

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6
Q

What is the aetiology of tuberous sclerosis? (2)

A
  1. 85% of inherited cases involve mutations in the TSC1 gene or the TSC2 gene
  2. New mutations account for 3/4 (75%) of cases
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7
Q

What do the TSC1 and TSC2 gene control?

A

TSC1: production of hamartin
TSC2: production of tuberin

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8
Q

Describe the inheritance patterns of tuberous sclerosis (2)

A
  1. If either parent has the disorder, child has 50% chance of inheriting it
  2. Parent carrying fault gene will also have it, although may be mild so do not realise
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9
Q

What symptoms can tuberous sclerosis in the brain cause? (6)

A
  1. Seizures/epilepsy
  2. Intellectual disability
  3. Autism
  4. Delayed development
  5. Behavioural problems
  6. Hydrocephalus
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10
Q

Give examples of behavioural problems that tuberous sclerosis can cause (7)

A
  1. Hyperactivity
  2. Impulsive behaviour
  3. Aggression and self-harm
  4. Anxiety
  5. Extreme shyness
  6. Depression
  7. Sleep disorders
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11
Q

What can a first symptom be of tuberous sclerosis?

A

Infantile spasms

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12
Q

What skin problems can tuberous sclerosis cause? (5)

A
  1. Light, ash-leaf shaped patches
  2. Rough, raise patches resembling orange peel, usually on back
  3. Cafe-au-lait spots
  4. Red lumps consisting of blood vessels and fibrous tissue may appear on face later in childhood
  5. Small fleshy bumps around nails
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13
Q

What are myomas? (2)

A
  1. Benign heart tumours which can cause heart failure in newborns
  2. May disappear over time and do not cause symptoms in childhood/adulthood
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14
Q

What do tumours on the kidney cause in tuberous sclerosis? (4)

A
  1. Internal bleeding
  2. High blood pressure
  3. Kidney failure
  4. Kidney cancer (rare)
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15
Q

What are the areas most commonly affected by tuberous sclerosis? (6)

A
  1. Brain
  2. Skin
  3. Kidneys
  4. Heart
  5. Eyes
  6. Lungs
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16
Q

What can tumours in the eye cause in tuberous sclerosis? (2)

A
  1. Grow on surface of the retina

2. Rarely grow large enough to impact vision but may do if near centre

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17
Q

What can tumours in the lungs cause in tuberous sclerosis?

A
  1. May cause chronic obstructive pulmonary disease (COPD)
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18
Q

How is tuberous sclerosis diagnosed? (7)

A
  1. Established clinical criteria
  2. Family history
  3. Genetic blood test
  4. Physical examinations
  5. MRI/CT scans to detect tumours
  6. EEG to detect abnormal brain activity associated with epilepsy
  7. Electrocardiogram (ECG) to detect abnormal heart activity
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19
Q

What is the prognosis of tuberous sclerosis? (2)

A
  1. Depends on severity
    Mild: grow well, live long, productive lives
    Severe: may have serious disabilities
  2. Life expectancy is usually unaffected
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20
Q

How is tuberous sclerosis treated? (5)

A
  1. Monitoring with regular testing
  2. Removal of large tumours
  3. mTOR inhibitor cream to treat skin abnormalities
  4. Treating additional symptoms eg. seizures, high blood pressure
  5. Medication to stop tumours growing too large eg. everolimus
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21
Q

What is neurofibromatosis?

A

Group of genetic disorders in which many soft, fleshy growths of nerve tissue (neurofibromas) form under the skin and in other parts of the body

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22
Q

What is a common symptom of neurofibromatosis?

A

Cafe-au-lait spots

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23
Q

What are 3 classifications of neurofibromatosis?

A
  1. Type 1
  2. Type 2
  3. Schwannomatosis
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24
Q

What is the prevalence of the different classifications of neurofibromatosis? (3)

A

Type 1: 1 in 3000
Type 2: 1 in 35,000
Schwannomatosis: less common

25
Q

Describe type 1 neurofibromatosis (4)

A
  1. Condition that you’re born with, although symptoms develop gradually
  2. Neurofibromas develop along peripheral nerves
  3. Sometimes tumours develop in optic nerves
  4. Bone and soft tissue may also be affected
26
Q

Describe type 2 neurofibromatosis (2)

A
  1. Tumours in the auditory nerve called acoustic neuromas

2. Sometimes tumours in the brain or meninges - meningiomas (not cancerous)

27
Q

Describe schwannomatosis (3)

A
  1. Causes pain, numbness and weakness
  2. Growths composed of mainly Schwann cells
  3. Develop around spinal, cranial and peripheral nerves
28
Q

Summarise the symptoms of NF1 (8)

A
  1. Skin is affected
  2. Neurofibromas
  3. Learning/behavioural problems, links to ADHD and ASD
  4. Optic pathway tumours
  5. High blood pressure caused by narrowing of artery to kidney
  6. Physical development
  7. Brain and nervous system
  8. Malignant peripheral nerve sheath tumour
29
Q

Are neurofibromas painful?

A
  1. Not usually painful but are visible

2. Catch on clothes and cause irritation

30
Q

What are plexiform neurofibromas? (2)

A
  1. Develop where multiple branches of nerve endings meet

2. Cause large swellings which may cause pain, weakness, numbness, bleeding or bladder/bowel changes

31
Q

What are symptoms of optic pathway glioma in neurofibromatosis type 1?

A

Objects becoming blurry, changes in colours, reduced field of vision, squinting, one eye looking more prominent

32
Q

How may physical development be impacted by NF1? (4)

A
  1. Scoliosis
  2. Larger than average head
  3. Smaller size and lower weight
  4. Bowing of limbs
33
Q

What are the symptoms of neurofibromas in the brain? (3)

A
  1. Migraines
  2. Brain tumours (personality changes, weakness on one side of body, balance/co-ordination difficulties)
  3. Epilepsy
34
Q

What is malignant peripheral nerve sheath tumour (MPNST)?

A
  1. One of most serious problems in NF1

2. Cancer that develops at plexiform neurofibroma

35
Q

Summarise the symptoms of NF2 (7)

A
  1. Develops in late teens/early 20s
  2. Tumours grow large over time
  3. Cataracts
  4. Tumours in brain, spinal cord or along nerves of arms and legs
  5. Skin problems
  6. Benign brain tumours
  7. Benign spinal cord tumours
36
Q

What are symptoms of NF2 which develop in young adulthood? (4)

A
  1. Hearing loss (gradually worsens)
  2. Tinnitus
  3. Balance problems
  4. Vertigo
37
Q

What can tumours growing large over time cause in NF2? (3)

A
  1. Numbness in face
  2. Weakness of tongue, slurred speech and dysphagia
  3. Facial pain
38
Q

Describe cataracts in NF2

A
  1. In 2/3 people lead to blurred or misty vision
39
Q

What causes weak arms/legs in NF2? (3)

A
  1. Tumours inside the brain or spinal cord
  2. Or tumours along the nerves to the arms and legs
  3. Usually cause persistent head aches too
40
Q

What is peripheral neuropathy in NF2?

A
  1. Pins and needles
  2. Numbness
  3. Reduced ability to feel temperature changes
  4. Burning pain
  5. Reduced muscle weakness
41
Q

What is the aetiology of NF2? (4)

A
  1. Caused by faulty NF1/NF2 gene
  2. 50% of cases: passed from parent to child
  3. If parent has faulty gene: 50% chance child will develop NF2
  4. Spontaneous mutation
42
Q

What are the NF1 and NF2 genes?

A

Tumour suppresors

43
Q

What is the inheritance pattern of neurofibromatosis? (3)

A
  1. Autosomal dominant pattern
  2. Mutation in only one copy of the gene to have a genetic predisposition to the tumours
  3. 50% cases inherited mutation from parent. 50% chance of passing to their child.
44
Q

How is neurofibromatosis diagnosed?

A
  1. Doctors evaluation
  2. Family history
  3. MRI or CT scan
  4. Genetic testing
45
Q

What is the prognosis of NF1? (3)

A
  1. Depends on severity
  2. Can live long healthy life but life expectency tends to be reduced
  3. Most common causes of death: hypertension, symptoms related to spinal cord tumours and malignancy
46
Q

What is the prongnosis of NF2? (4)

A
  1. Depends on age symptoms developed, degree of hearing deficit and number/location of tumours
  2. Almost all develop bilateral vestibular schwannomas by age 30
  3. Tumours generally benign but can impact QoL and lead to mortality
  4. Average death is 36 years - extended with early diagnosis and treatment in speciality centres
47
Q

How is NF1 treated?

A
  1. Based on signs and symptoms as there is no way to stop growth
  2. Can remove neurofibromas on the skin
  3. Surgery to remove cancerous tumours or chemotherapy eg. MPNST
  4. Optic gliomas treated with surgery/radiotherapy
48
Q

Why is radiation generally not recommended in NF?

A
  1. May increase risk of malignancy
49
Q

How is NF2 treated? (3)

A
  1. Monitored periodically (MRI, hearing/speech, eye exams)
  2. Vestibular schwannomas typically grow slowly so observed before treatment becomes necessary (usually surgery)
  3. Hearing preservation and augmentation are important
50
Q

What is Sturge-Weber syndrome?

A
  1. Rare disorder
  2. Babies born with port-wine birthmark on their face
  3. Over growth of blood vessels (angioma) in tissues that cover the brain
51
Q

What is port-wine birthmark caused by in SWS?

A
  1. Enlarged blood vessels right underneath the skin
52
Q

What is the prevalence of SWS?

A

1/20,000 - 1/50,000

53
Q

What is the aetiology of SWS? (2)

A
  1. Mutation in GNAQ gene

2. Not inherited but occurs very early in embryo development (somatic mutation)

54
Q

What is the GNAQ gene responsible for? (2)

A
  1. Making a protein involved in regulating the growth of blood vessels
  2. Mutation = increased growth
55
Q

Where does the port-wine birthmark usually occur? (3)

A
  1. Usually on forehead and upper eyelid, but may involve lower face
  2. If both eyelids are involved - much more likely to have an angioma in the tissues covering the brain
  3. Varies in size and colour (light pink to deep purple)
56
Q

What are 5 other symptoms in SWS?

A
  1. Seizures (75-90%) typically during first year, usually on on one side opposite birthmark
  2. Weakness or paralysis on side of body opposite the birthmark
  3. Intellectual disability (50%)
  4. Language and motor skills delay
  5. Glaucoma may damage the optic nerve
57
Q

How is SWS diagnosed? (6)

A
  1. Based on symptoms, first sign is usually birthmark (not all have this)
  2. MRI of brain to look for abnormal clusters of blood vessels
  3. CT scan
  4. Neurologic exam to check for weakness, lack of co-orination or paralysis
  5. Eye exam
  6. EEG to look at brain’s electrical activity
58
Q

What is the prognosis of SWS?

A
  1. Symptoms tend to worsen with age
  2. Depends on severity and how well seizures and glaucoma can be controlled
  3. More severe seizures at early age = increase risk for developmental and intellectual disability
  4. Adults - psychological issues
  5. Increased risk of stroke
59
Q

How is SWS treated? (5)

A
  1. Relieving symptoms eg. seizures with drugs/surgery
  2. Glaucoma is controlled with drugs or surgery
  3. Eye drops to decrease pressure in eyes by reducing fluid production
  4. Low doses of aspirin to prevent strokes and reduce eye pressure
  5. Laser treatment (PDL) may lighten or remove birthmark

Neurology (17 decks)

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