Multisystem Diseases Flashcards
What is neurofibromatosis? (NF1 and NF2)
A genetic condition which results in NON - CANCEROUS fibrous tumours along the nervous system.
What causes NF1?
A genetic mutation in chromosome 17.
What causes NF2?
A Genetic mutation in chromosome 22.
What type of chromosomes are altered?
Chromosome 17 and 22 - these are both tumour suppressor genes and without them tumours occur more easily.
Is neurofibromatosis dominant or recessive?
Autosomal dominant (only need one chromosome)
What does NF1 mainly affect?
Nerves in the extremities and underneath the skin.
What does NF2 mainly affect?
The central nervous system, the brain, spinal cord and cranial nerves.
What cranial nerve is commonly affected in NF2?
Cranial nerve 8 - often leads to bilateral acoustic neuromas (tinnitus and gradual hearing loss)
What are signs and symptoms of NF1? CRABBING CRITERIA
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
What are the main complications of NF1?
Renal artery stenosis (secondary hypertension) EpilepsyseizuresScoliosisLearning difficultiesvision lossGI tumour
what is the name of the protein coded for by chromosome 17?
Neurofibromin.
What is the name of the protein coded for by chromosome 22?
Merlin.
What is the tumour called which usually develops in NF2?
Schwannomas.
Which neurofibromatosis causes bilateral acoustic neuromas?
NF2.
What is myotonic dystrophy?
An autosomal dominant genetic disorder, it causes muscles to contract and not be able to relax.
What is anticipation?
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.
What are the symptoms and signs of myotonic dystrophy?
Long thin faceBilateral ptosiscataracts toe and foot dropMYOTONIA - sustained muscle contractions and difficulty relaxing muscles after their use.
What is tuberous sclerosis?
An autosomal dominant genetic condition causing growths to grow in many places.
Where do most lesions from tuberous sclerosis develop at?
Skin and brainThen kidney, lungs, eyes and heart.
What type of tumour/nodule is present with tuberous sclerosis?
hamartoma - made up of lots of different cells depending on where it is.
What are the signs/symptoms of tuberous sclerosis?
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.
What are complications of tuberous sclerosis?
INCREASED LIFETIME RISK OF CANCER.Brain - learning difficulty, seizures, cognitive dysfunction.Kidney - polycystic kidneys,
What is the management of tuberous sclerosis?
No official management, just have to manage things like seizures.