Often, the college asks the candidates to discuss diseases with a significant community prevalence which have some sort of serious impact on the ICU management of affected patients. it makes sense to expect final-stage CICM trainees to be able to discuss SLE or scleorderma, and the attention directed at these diseases is understandable.

On the other hand, there are occasionally questions in the Fellowship Exam which cannot be explained by this framework. There is a group of rare diseases which have only ever appeared once and which can reasonably be expected to never appear again. These are grouped here in no particular order, basically because there is nowehere else to put them.

Myotonic dystrophy

Question 30.1 from the first paper of 2017 asked for six clinical features of myotonic dystrophy, a  congenital disorder which results in an abnormal skeletal muscle myosin kinase protein. The college answer lists 11 features, but in fact there may be many more. An excellent review by Turner et al (2010) adds a few extra features.  Remixed with the college answer, the full list looks like this:

What ICU relevance might we wring from this? Well. These people do end up in ICU a lot. Not the least of their presentations are from theatre recovery, as they are referred to the ICU by concerned anaesthetists as elective post-operative admissions. An excellent (though somewhat dated) article by Mudge et al (1980) discusses some of these concerns, which remain relevant in the contemporary anaesthetic setting.

In short, the following anaesthetic problems usually arise, which are worth knowing about

• Cardiac arrhythmias
• Abnormal response to suxamethonium (persistant contraction of all muscles, occasionally making ventilation impossible)
• Using neostigmine to reverse the curare toxins may in fact precipitate myotonia
• Increased respiratory sensitivity to sedating agents, particularly narcotics (thus, safest to leave them intubated)
• Myotonia in response to stimulation (which is unaffected by neuromuscular junction blockers) tends to frustrate the surgeons, so virtually every procedure can be expected to take longer. Apparently warming the operating theatre canhelp with this, but then you have to deal with sweaty surgeons whinging at you.
• Cough will be weakened and clearance of secretions will be poor, with implications for extubation

Acromegaly

This also came up in Question 30.1 from the first paper of 2017, where the college wanted candidates to identify acromegaly from Wikipedia's copyright-free images (originally from Chanson et al, 2008). Additionally, some of the clinical features were asked for (specifically, biochemical abnormalities).

Ankylosing spondylitis

This has come up in Question 2 from the first paper of 2019. The examiners asked for characteristic plain Xray findings in the C-spine series, which is baffling because nobody has ordered one since 2008. However, in case they ask it again, here they are, from Radiopedia and Østergaard (2012):

• Romanus lesions of the spine (shiny corner sign): small erosions at the corners of vertebral bodies with reactive sclerosis
• vertebral body squaring
• Andersson lesion: noninfectious spondylodiscitis:
• Bamboo spine: diffuse syndesmophytic ankylosis 
• Dagger spine: interspinous ligament ossification
• enthesophyte formation from enthesopathy
• dural ectasia