multisystem disorders Flashcards
What is the presentation of neurofibromatosis type 1 (NF1)
Needs at least 2 of the following for diagnosis:
Cafe au lait spots - 6 or more
Nurofibromas - 2 or more
Axillary freckling
Optic glioma
Lisch nodules
Thinning of long bone cortex
Family history - autosomal dominant
What do lisch nodules look like
specks in the iris
What are some features a child with neurofibromatosis may have
Macrocephaly
Short status
Dysmorphic features - noonan look
Learning difficulties
Epilepsy
Scoliosis
Raised BP
Neoplasia
Pseudoarthritis of the tibia
What gene is affected in Neurofibromatosis type 1
17q tumour supressor gene
What are the features of NF2
Acoustic neuromas - bilateral usually
CNS and spinal tumuours
few cafe au lait spots
What gene is affected in neurofibromatosis type 2
Chromosome 22
What is the triad which tuberous sclerosis complex (TSC) presents
Epilepsy
Learning difficulty
Skin lesions
What genes are affected in tuberous sclerosis (TSC) complex
TSC1
TSC2
What are some skin lesions which are present in TSC
depigmented macules
angiofibromas
fibrous plaque forehead
shagreen patches
ungual fibromas
What are the other features of TSC
Kidney cysts and angiomyolipomata
Phakoma in eye
Rhabdomyomas in heart
What is the presentation of myotonic dystrophy
Bilateral late-onset cataract
Muscle weakness, stiffness and
Low motivation - bowel problems
Diabetes
Heart block
What happens to the myotonic dystrophy as it gets passed through generations
The severity increases through the generations
