Multi-System Disease

Question 1

true or false

neurofibromatosis type 1 is autosomal recessive

Answer 1

false it is autosomal dominant

Question 2

what is the diagnostic criteria for neurofibromatosis type 1?

Answer 2

2 or more:
> lisch nodules
> axillary freckling
> café au lait spots
> neurofibromas
> thinning of the bone cortex
> family history
> optic glioma

Question 3

what are some other features of neurofibromatosis type 1?

Answer 3

> short stature
> scoliosis
> learning difficulties
> macrocephaly
> dysmorphic features
> epilepsy
> raised BP
> neoplasia
> pseudoarthritis of the tibia

Question 4

what is the management of neurofibromatosis type 1?

Answer 4

> annual review of the affected individuals
annual review of at risk children until 5 years
- bp
- spine
- tibia
- visual acuity and fields
- educational assessment

Question 5

describe the genetics of tubular sclerosis

Answer 5

> autosomal dominant
variable expression
full penetrance

Question 6

what are the clinical feature of tubular sclerosis?

Answer 6

> classic triad:
 - skin lesions
 - epilepsy
 - learning difficulties
> kidney cysts
> phakomas on the eye
> rhabdomyomas

Question 7

how is myotonic dystrophy passed on?

Answer 7

it is autosomal dominant and it increases in severity with each generation

Question 8

what are the clinical features of myotonic dystrophy?

Answer 8

> muscle weakness
> muscle stiffness
>  myotonia
> bilateral onset cataracts
> low motivation
> bowel problems
> heart block
> post anaesthetic risk
> congenital myotonic dystrophy
> diabetes mellitus