Tuberous Sclerosis

Question 1

What is tuberous sclerosis?

Answer 1

Autosomal dominant condition which is caused by mutations in TSC1/2 genes.
Results in harmartomas forming

Question 2

What are the skin features of tuberous sclerosis?

Answer 2

1. Ash leaf spots (depigmented areas of skin)
2. Shagreen patches (thickened, dimpled patches of skin)
3. Angiofibromas (skin coloured papules on nose and cheeks),
4. Ungual fibroma (painless lumps which grow from nail bed)
5. Cafe au lait spots (flat pigmented lesions)
6. Poliosis (isolated patch of white hair on head, eyelashes or eyebrows)

Question 3

What are the neurological features of tuberous sclerosis?

Answer 3

Epilepsy, learning difficulties and brain tumours.

Question 4

What is are the other features of tuberous sclerosis?

Answer 4

Rhabdomyomas in heart,
Angiolipomas in kidneys,
Lymphangioleiomyomatosis in lungs,
Astrocytoma,
Retinal hamartomas

Question 5

What is neurofibromatosis?

Answer 5

Genetic condition which causes nerve tumours (neuromas) to develop. Whilst benign they can cause neurological and structural problems

Question 6

What are the features of neurofibromatosis type 1?

Answer 6

CRABBING
C - cafe au lait spots,
R - Relative with NF1,
A - Axillary or inguinal freckling,
BB - Bony dysplasia such as Bowing of long bones/
I - Iris hamartomas (lisch nodules) yellow spots on iris.
N - neurofibromas
G - glioma of optic pathyway

Question 7

What are some complications of NF1?

Answer 7

Malignant peripheral nerve sheeth tumours (MPNST)
Gastrointestinal stromal tumours (GIST),
Migraines,
Epilepsy

Question 8

Describe features of neurofibromatosis type 2

Answer 8

Mutation in TSG in shwann cells leading to shwannomas.
Particularly associated with acoustic neuromas (vesticular schwannoma) (if bilateral acoustic neuroma then almost Definity has NF2)

Question 9

What is the difference between an upper and lower motor neurone lesion of the facial nerve?

Answer 9

UMN - forehead sparing as the forehead is innervated by two UMN.
LMN - forehead paralysis (cannot raise eyebrows) this is less concerning

Question 10

What are the causes of an UMN lesion of the facial nerve?

Answer 10

Unilateral - Strokes or tumours.
Bilateral - Pseudobulbar palsy or MND

Question 11

Describe features of Bell’s Palsy?

Answer 11

Idiopathic lower motor neuron facial nerve palsy. If presenting within 72 hours of onset then can give 50mg of pred for 10 days

Question 12

Describe features of Ramsay Hunt syndrome

Answer 12

Varicellar Zoster virus which causes unilateral lower motor neuron facial nerve palsy and vesicular rash in ear canal/pinna/ear of affected side.
Treat with acicilovir and lubricating eye drops.

Question 13

What are some other causes of lower motor neurone facial nerve palsy?

Answer 13

Lyme disease,
Otitis media/externa,
Diabetes,
Sarcoid,
MS,
Guillain-Barre syndrome,
Acoustic neuroma

Question 14

What is Huntington’s disease?

Answer 14

Autosomal dominant condition caused bu trinucleotide repeat on HTT gene on chromosome 4.

Question 15

What is genetic anticipation?

Answer 15

It is when offspring’s of affected patent have more repeats in their gene resulting in an earlier onset of disease and increased severity.

Question 16

What is the presentation of Huntington’s?

Answer 16

Typically begins with cognitive, psychiatric or mood problems then progressive to movement disorder with:
Chorea (involuntary, abnormal body movements),
Dystonia (abnormal muscle tone leading to abnormal positions),
Rigidity,
Eye movement disorder,
Dysarthria,
Dysphagia

Question 17

What is the investigations and management for Hunting’s disease?

Answer 17

Investigation - Genetic testing.
Management - Fully supportive, breaking bad news, genetic counselling, physiotherapy, SSRIs, end of life care.
Tetrabenazine for chorea

Question 18

Describe features of brown sequard syndrome

Answer 18

Caused by lateral hemisection of spinal cord.
Presents with ipsilateral weakness below lesions, contralateral loss of pain and temperature and ipsilateral loss of proprioception and vibration sense.

Question 19

What is Freidreich’s ataxis?

Answer 19

Autosomal recessive ataxia which presents with gait ataxia and kyphocoliosis, cerebellar ataxia, optic atrophy and spinocerebellar tract degeneration.
Associated with HOCM, DM and high arched palate

Question 20

Describe features of ataxic telangiectasia

Answer 20

It is an autosomal recessive condition which presents with cerebellar ataxia, telangiectasia, IgA deficiency.
Presents much younger than Freidreich’s ataxia

Question 21

What tumours commonly spread to the brain?

Answer 21

Lung (most common),
Breast,
Bowel,
Skin (melanoma)
Kidney

Question 22

What does this head CT show?

Answer 22

Glioblastoma Multiforme - Very poor prognosis. Has central necrosis and rim which enhances with contrast