Autosomal dominant conditions Flashcards
1
Q
Tuberous sclerosis complex 1 and 2
A
- males and females equally affected
- LD
- seizures-90%
- Salaam attacks in babies
- hamartomas of the CNS
- Ash leaf spots
- fibromas of the nails
- tumours occur in heart muscles and kidneys
2
Q
Neuropsychiatric features of TS
A
- autism
- hyperactivity
- impulsivity
- aggression
- spectrum of LD
- self-injurious behaviour
- sleep disturbance
3
Q
Neurofibromatosis type 1
A
- caused by mutation of a gene on chromosome 17
- tumours on CNS
4
Q
Diagnosis of NF1
A
- 6 or more cafe au lait spots
- 2 or more neurofibromas
- freckling in the axillary or inguinal regions
- optic glioma
- 2 or more lisch nodules
- distinctive osseous lesion
- first degree relative with NF1
5
Q
NF1 neuropsychiatric features
A
- half have SLT issues
- 10% have moderate to profound LD
- distractable, impulsive, hyperactive
- anxiety
- increased incidence of mood and anxiety disorders
6
Q
Sturge-Weber
A
- LD
- epilepsy
- hemiparesis
- associated with port-wine stains
- angiomas of the meninges in the temporal and occipital areas
