Neoplasms and Genetic syndrome

Question 1

Classification of brain tumours?

Answer 1

Gliomas
astrocytomas, oligodendrogliomas, ependymomas)
meningiomas, schwannomas

Question 2

Brain tumours
Secondary

Answer 2

Common metastases
lung, breast, melanoma

Question 3

Common Presentations

Answer 3

• Headaches (worse in the morning, with positional changes)
• Nausea/vomiting (raised ICP)
• Focal neurological deficits (e.g., hemiparesis, aphasia)

-Seizures

Question 4

Key tumour types?

Answer 4

glioblastoma multiforme GBM

Meningioma

Pituitary adenoma

Question 5

Glioblastoma Multiforme (GBM):

Answer 5

Aggressive, poor prognosis, ring-enhancing lesion on MRI

Question 6

Meningioma

Answer 6

Extra-axial, often benign, “dural tail” sign on imaging

Question 7

Diagnosis

Answer 7

Imaging: CT/MRI (MRI preferred for detailed structural evaluation)

Biopsy for histopathology (gold standard)

Question 8

Mx of tumours?

Answer 8

Surgery: First-line for resectable tumours

Radiation therapy: Often used for residual disease

Chemotherapy: E.g., temozolomide for glioblastoma

Symptom control:

Corticosteroids for cerebral edema

Antiepileptics for seizure prophylaxis

Question 9

Neurofibromatosis (NF)

Answer 9

NF1:

Autosomal dominant (mutation in NF1 gene)

Features: Cafe-au-lait spots, neurofibromas, Lisch nodules (iris hamartomas), optic gliomas

Associated risks: Learning difficulties, skeletal abnormalities (e.g., scoliosis)

Question 10

Neurofibromatosis NF2

Answer 10

NF2:

Autosomal dominant (mutation in NF2 gene)

Features: Bilateral vestibular schwannomas, hearing loss, tinnitus, cataracts

Increased risk of meningiomas and ependymomas

Question 11

Diagnosis
Neurofibromatosis

Answer 11

NF1: Clinical criteria (e.g., ≥6 cafe-au-lait spots, neurofibromas, or family history)

NF2: Genetic testing, MRI for vestibular schwannomas

Question 12

Mx for NF ?

Answer 12

Multidisciplinary approach:

Regular monitoring (e.g., ophthalmology for optic gliomas, audiology for hearing loss)

Surgery for symptomatic tumours

Genetic counseling for family planning

Question 13

Tuberous Sclerosis

1. Pathophysiology

Answer 13

Autosomal dominant (mutations in TSC1 or TSC2 genes)

Causes widespread hamartomas affecting multiple organs

Question 14

A 35-year-old presents with progressive hearing loss and bilateral vestibular schwannomas on MRI. Diagnosis?”

Answer 14

Answer: NF2

Question 15

NF1: “CAFE SPOT”

Answer 15

Cafe-au-lait spots

Axillary freckles

Fibromas (neurofibromas)

Eye Lisch nodules

Skeletal abnormalities

Positive family history

Optic glioma

Tumours

Question 16

Diagnosis of tuberous sclerosis

Answer 16

Major features: Facial angiofibromas, cortical dysplasias, retinal hamartomas

Minor features: Dental pits, rectal polyps

Question 17

tuberous

Answer 17

Imaging:

MRI brain (for CNS involvement)

Renal ultrasound or MRI

Question 18

Tuberous Sclerosis

Answer 18

Anti-epileptics for seizures (first-line for symptom control)

Everolimus (mTOR inhibitor) for SEGAs and renal angiomyolipomas

Surveillance:

Regular renal imaging

EEG for epilepsy monitoring

Multisystem monitoring with specialist teams

Question 19

LMN neurone signs where is the lesion?

Answer 19

anterior horn of the spinal cord, peripheral nerve NMJ or muscle

Question 20

LMN signs?

Answer 20

paralysis
atrophy / loss of muscle
fasciculations / muscle twitching
hyporeflexia / decreased absent reflexes

Question 21

Riluzole

Answer 21

medication used in ALS

reduces release of glutamate
> primary excitatory neurotransmitter in CNS

Question 22

parkinsons is a

Answer 22

reduction of dopaminergic neurones in the basal ganglia

LOss of dopaminergic neurones in the substanstia Nigra

Question 23

Basal ganglia is a group of structures

Answer 23

coordinates movement
learning specific movement patterns

Question 24

is Parkinson’s bilateral or unilateral?

Answer 24

worse on one side 4-6 hertz frequency

Question 25

benign essential tremor is worse with rest?

Answer 25

false improves with rest

Question 26

levodopa

Answer 26

synthetic dopamine oral intake combine with a peripheral decarboxylase inhibitor > stops metabolims befor eit reaches brain

Question 27

main side effect of levodopa?

Answer 27

dyskinesia > muscle contraction abnormal chorea jerking random movements

Question 28

how to manage the main side effect of levodopa?

Answer 28

amantadine glutamate antagonist

Question 29

COMT Inhibitors

Answer 29

metabolises levodopa in both the body and brain. Entacapone is taken with levodopa (and a decarboxylase inhibitor) to slow the breakdown of the levodopa in the brain. It extends the effective duration of the levodopa.

Question 30

what is the role of cabergoline

Answer 30

dopamine agonists mimic action dopamine in the basal ganglia stimulates dopamine receptors

Question 31

Huntingtons chorea

Answer 31

autosomal dominant genetic condition trinucleotide repeat disorder HTT gene on chromosome 4

Question 32

trinucleotide repeat disorders

Answer 32

huntingtons fragile X spinocerebellar ataxia myotonic dystrophy friedrich ataxia

Question 33

genetic anticipation.

Answer 33

successive generations have more repeats in gene earlier age of onset increased severity of disease