5/11/19

Question 1

An Italian boy presents with recurrent episodes of fever which last two-three days. These febrile episodes occur every month and are associated with left sided chest pain and ankle swelling. He also has a recurring red rash on his ankle which resolves with the fever. You suspect Familial Mediterranean Fever. What is this?

Answer 1

• inflammatory disorder that is inherited
• occurs in mediterranean people
• the gene is called “pyrin” like pyros or fire. The MEFV gene
• 90% of people will have their first attack by 18 years
• seven types of attacks
  
  • abdo pain
  • joint attacks
  • chest attack
  • scrotal attack
  • myalgia
  • erysipeloid
  • fever without symptoms
• Complications:
  
  • amyloidosis causes kidney failure during crises as it accmulates. Can also occur in heart, spleen, GI and thyroid
  • increased risk for HSP
• Treatment: NSAIDs, colchicine

Question 2

Carbamazepine side effects

Answer 2

Stevens-Johnson syndrome, agranulocytosis, aplastic anaemia, liver toxicity, tics, transient leukopenia;

hyponatraemia, nausea; dizziness.

Question 3

Clobazam side effects

Answer 3

apnoeas, dose-related neurotoxicity (drowsiness, sedation,

ataxia), hyperactivity, drooling, increased secretions.

Question 4

Lamotrigine side effects

Answer 4

Stevens-Johnson syndrome, rarely liver toxicity,

CNS side effects - headache, ataxia, dizziness,

tremor (but usually less than other AEDs).

Question 5

Phenytoin side effects

Answer 5

Stevens-Johnson syndrome, liver toxicity,

Gingival hyperplasia, coarsening of the facies,

hirsutism, cerebellovestibular symptoms (nystagmus and ataxia).

Question 6

Sodium Valproate side effects

Answer 6

Sodium valproate is associated with weight gain. Other side effects include: hepatic and pancreatic toxicity, hyperammonaemia, tremor, alopecia, menstrual irregularities.

Question 7

What is Narcolepsy?

Answer 7

• primary disorder
• excessive daytime sleepiness
• can present from childhood/adolescence onwards
• goes unrecognised and undiagnosed until adulthood
• 25% of cases, family hx (neuropetitide orexin is at low levels ?autoimmune disorder)
• secondary narocolepsy post brain injury can occur
• Cardinal feature: repeated episodes of profound sleepiness at rest and during activity (talking, eating)
• This can be brief/microsleeps which results in lapse in attention and mood disturbance. So they can be misdiagnised with ADHD/depression
• Gold standard: overnight polysomnogram with multiple sleep latency test. This means that they are given the chance to nap x4-5 times and narcoleptics have a short sleep latency onset as well as periods of REM sleep immediately after sleep onset
• Tx: stimulants to combat daytime sleep and REM sleep suppressants to stop cataleptic attacks

Question 8

What are Porphyrins?

Answer 8

• large nitrogen containing molecules
• Porphyrias = disorders of porphyrin synthesis
• from deficient enzymes in heme synthesis
• INTERESTINGLY, it rarely causes anemia because there is compensation
• symptoms usually come from accmulation of porphyrins

Question 9

Heme. Tell me about it

Answer 9

• mostly produced in bone marrow (80%) and liver (20%)
• Used in cytochrome P450 enzymes.
  
  • anything that can increase the cyto P450 enzyme can exacerbate porphyria.
• Heme production starts in mitochodnria
  
  • you need Succinyl CoA and glycine
  • combined to form delta=ALA
  • enzyme: delta-ALA synthase
  • rate limiting step (inhibited by heme)

Question 10

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