Neurologist spend most of their time treating many ‘mainstream’ disorders such as epilepsy and migraine. I discussed this in my previous post, what are the most iconic neurological disorders?Neurologists are however required to know many other diseases, often very rare and occasionally esoteric. Some of these diseases are so rare many neurologists haven’t heard of them, or only know about them in passing.
These rare diseases often creep up on us unawares. It is difficult, if not impossible, for any neurologist to confidently diagnose, investigate, treat, and monitor these rare diseases without digging deep and researching extensively. What are these rare disorders? To find out, I scoured neurochecklistsand compiled this list. I have linked each to a reference for further study. Here then are my 75 rarest and strangest neurological diseases.
Every now and then neurologists come across patients with what appears to be ‘straightforward’ viral encephalitis but who do not respond to conventional treatment. These treatments are usually according to established guidelines such as the ABN/BIAN guidelines, theIDS Guidelines. What to do when the patient isn’t responding is however very challenging.
Journal of Neuroinfectious Diseases (ssshh…the JNNP declined it) has just published our case report of such a patient who turned out to have H1N1 influenza encephalopathy. This experience suggests we should consider an autoimmune cause in such cases, especially if the spinal fluid does not show any viruses.
It’s only a single patient but with an excellent outcome and valuable insights (I would say so wouldn’t I!). It was rather fortuitous as her treatment with IVIg was on the assumption she had anti NMDA antibody encephalitis. Its not always in the science as the viral serology subsequently showed!
Is your interest piqued enough? OK, here is the link (and its open access):
Neurologists typically see what they will call run-of-the-mill stuff. These are cases they don’t typically struggle too hard to make a diagnosis or to treat. These common cases don’t really keep us on our toes. No, what gets neurologists bristling, we admit, are the esoteric diseases. We are thrilled when we sniff a rarity in the air. We develop goosebumps when we think we are on the trail of the next case report. We are envious when such cases are presented at the neurological altar, the neuropathological conference.
But what are these mysterious cases that set our blood on fire? Which are the most perplexing? What are these diseases so rare only a few have the knowledge and experience to recognise them? To investigate, I had a quick look at the index of neurology checklists I have been labouring to produce, and I came up with a list of 75. I have grouped these into three depending on their degree of perplexity.
And below are probably the 25 most esoteric neurological conditions. I consider these among the conditions most neurologists would generally have very little knowledge or experience of, and there would probably be a few experts worldwide who would have experience in them.
Here is a pdf of all 75 esoteric neurology conditions. The is a personal, non-evidenced, list; understandably there will be differing opinions-especially from our Ivory towers! The list is therefore not immutable so please post your comments; I am open to expanding or deflating it with justifiable reason. And don’t worry, there are checklists on all these esoteric conditions coming soon.
The tendency to see patterns has been used to good effect in neurological imaging. Many radiological diagnostic signs have been assigned names that reflect the false patterns they project on the human mind. This concept of neuropareidolia is excellently explored in this paper. Neurologists and radiologists for example talk of the hot cross bun sign in multiple system atrophy, the panda sign in Wilson’s disease, and the hummingbird sign in progressive supranuclear palsy (PSP). It seems we bring our humanity to the workplace!
An odd connection you may say but here are quite a few things that link epilepsy with music. lepsy. The first is the therapeutic effect of on epilepsy. This has been termed ‘The Mozart Effect‘ based on studies which report that listening to Mozart reduces epileptic brain discharges.
This however seems at odds with the known fact that epilepsy may be triggered by music. Music is one of several triggers of epilepsy. People with this musicogenic epilepsy may become frightened of music, a concept called musicophobia. This article in Scientific American gives an example where the music of Sean Paul is the consistent trigger for someone’s seizures. In another anecdote from NME, a Ne Yo song is the culprit.
Finally, music may be a manifestation of epilepsy. These present as musical hallucinations.