Prions or Creutzfeld Jakob disease as the primary disease is known is probably lowest form of infectious particle known to man, very slowly progressive to an extent of tolerance or self limiting in many active closed systems. Mad cow disease, British outbreaks of the 90's that interrupted our peace was the faster variant caused by introduction of brain and bone infected feeds to cows and therefore burgers for human consumption, the theory goes..
Kuru, the skull trophy variant is probably closer to mad cow in transmission. Papua new Guinea skull trophy tribes were instrumental in sustaining this variant incidence. These are only proteins, lower than even viruses that are either DNA or RNA in form, yet still very infective and invariably fatal. The classic CJD is probably spontaneous mutation, neuro degenerative rather than infection. The end result classical though.
The présentation is with dementia, a lot more rapidly progressive in a much younger patient profile, with no genetic predisposition or acquired cause to in sight.
Myoclonus is a predominant part of this picture. EEG helps but not diagnostically helpful. One needs a brain biopsy to confirm. Doctors tend to chicken out at this level as they consider this too invasive to contemplate, more so if the diagnosis is not in the differential.
Post mortem biopsy gets to be our only salvation from the political insult that soon follows.
I have to know as my diagnostic capabilities was insulted by non less than the minister of tourism when we diagnosed it in a white 40 yrs old lady, without no travel history, no biopsy for confirmation.
This wasn't the first time I was accused of using my gut for diagnosis. It should have bounced, student days lay strong foundation for such incidents. I can show a rhino a trick or two in the thick skin department but this uppercut was from a fellow black person, with no medical knowledge except for Wikipedia and internet.
My guard was down.
We were hoping to save further insult to a patient when resources were few and far between.
Working from within the HMO system, getting the histo pathological results would change nothing treatment wise. Another would have thought this self serving exercise though, and the minister was one.
Biopsy had to be summarily arranged without further hesitation. The first mad cow on our shores couldn't be left to medical iliterates to diagnose and manage. The tourism status of South Africa was deemed to be at risk because of a mad platteland doctor bent on being medically right. That was the Sunday paper headlines as it appeared then. One had to accept little knowledge is dangerous. I read the Sunday times first time that weekend, six free copies donated. Never knew I had that many friends.
Three months later the biopsy confirmation arrived. No fanfare, no Sunday headlines. Needless to say the minister never came back to apologize either.
May have to do with the fact that I refused to see her for that first appointment.
The honorable minister had very little of honor about her. She wanted to be seen before sick patients. My supervisor then was white. He could be race card pushed.
