Multisystem Diseases

Question 1

What is neurofibromatosis? (NF1 and NF2)

Answer 1

A genetic condition which results in NON - CANCEROUS fibrous tumours along the nervous system.

Question 2

What causes NF1?

Answer 2

A genetic mutation in chromosome 17.

Question 3

What causes NF2?

Answer 3

A Genetic mutation in chromosome 22.

Question 4

What type of chromosomes are altered?

Answer 4

Chromosome 17 and 22 - these are both tumour suppressor genes and without them tumours occur more easily.

Question 5

Is neurofibromatosis dominant or recessive?

Answer 5

Autosomal dominant (only need one chromosome)

Question 6

What does NF1 mainly affect?

Answer 6

Nerves in the extremities and underneath the skin.

Question 7

What does NF2 mainly affect?

Answer 7

The central nervous system, the brain, spinal cord and cranial nerves.

Question 8

What cranial nerve is commonly affected in NF2?

Answer 8

Cranial nerve 8 - often leads to bilateral acoustic neuromas (tinnitus and gradual hearing loss)

Question 9

What are signs and symptoms of NF1? CRABBING CRITERIA

Answer 9

Must have at least 2Cafe au lait spots (at least 6, <15mm in adults, <5mm in kids)Relative with NF1Axillary/inguinal frecklesBony dysplasia like BOWING of the calfLisch nodules Neurofibromas (2 or more, or one plexiform neurofibroma)Giloma of the optic nerve

Question 10

What are the main complications of NF1?

Answer 10

Renal artery stenosis (secondary hypertension) EpilepsyseizuresScoliosisLearning difficultiesvision lossGI tumour

Question 11

what is the name of the protein coded for by chromosome 17?

Answer 11

Neurofibromin.

Question 12

What is the name of the protein coded for by chromosome 22?

Answer 12

Merlin.

Question 13

What is the tumour called which usually develops in NF2?

Answer 13

Schwannomas.

Question 14

Which neurofibromatosis causes bilateral acoustic neuromas?

Answer 14

NF2.

Question 15

What is myotonic dystrophy?

Answer 15

An autosomal dominant genetic disorder, it causes muscles to contract and not be able to relax.

Question 16

What is anticipation?

Answer 16

Due to cell division, theres more repeats which causes the child to inherit more repeats than the parent did - the higher the repeats the earlier the symptoms onset and the increased severity.

Question 17

What are the symptoms and signs of myotonic dystrophy?

Answer 17

Long thin faceBilateral ptosiscataracts toe and foot dropMYOTONIA - sustained muscle contractions and difficulty relaxing muscles after their use.

Question 18

What is tuberous sclerosis?

Answer 18

An autosomal dominant genetic condition causing growths to grow in many places.

Question 19

Where do most lesions from tuberous sclerosis develop at?

Answer 19

Skin and brainThen kidney, lungs, eyes and heart.

Question 20

What type of tumour/nodule is present with tuberous sclerosis?

Answer 20

hamartoma - made up of lots of different cells depending on where it is.

Question 21

What are the signs/symptoms of tuberous sclerosis?

Answer 21

Ash leaf spot (white patch on skin)shagreen patch dark raised patch on the foreheadrenal tumourspolycystic kidneys angiofibromas (skin growths)poliosis (isolated white patch of hair)cafe au lait spots.

Question 22

What are complications of tuberous sclerosis?

Answer 22

INCREASED LIFETIME RISK OF CANCER.Brain - learning difficulty, seizures, cognitive dysfunction.Kidney - polycystic kidneys,

Question 23

What is the management of tuberous sclerosis?

Answer 23

No official management, just have to manage things like seizures.