Passmedicine Flashcards
(3 cards)
1
Q
What are the features of tuberous sclerosis?
A
Tuberous sclerosis
AD inheritance. Neurocutaneous features.
Neuro features:
- developmental delay/intellectual impairment
- epilepsy
Cutaneous features:
- Ash-lead spots under UV light
- rough patches over lumbar skin (Shagreen patches)
- adenoma sebaceum (butterfly distribution)
- fibromata beneath nails
- cafe-au-lait spots
Other:
- retinal hamartomas (white areas)
- rhabdo of heart
- gliomatous changes in brain
- polycystic kidneys, renal angiomyolopomata
- multiple lung cysts
2
Q
Primary biliary cirrhosis features
A
M rule:
- IgM
- anti-Mitochondrial antibodies, M2 subtype
- Middle aged females
Often present with sicca syndrome (occurs in 70%). Raised ALP differentiates PBC from Sjogrens
3
Q
Cryptosporidium infection with watery diarrhoea
A
Supportive therapy
