Eponymous means when something is named after a person. In the office nearly every day I make a diagnosis of an eponymous illness, injury or disorder of some sort. Some are so common that the eponym is much more recognizable than the medical name. Probably more people know about Lou Gehrig’s disease than know about amytrophic lateral sclerosis. Almost certainly more people know about Huntington’s Chorea than have heard of autosomal dominant chorea. Do you think of Alzheimer ’s disease or primary senile degenerative dementia. Do you think of your favorite major league pitcher needing an ulnar collateral ligament repair or needing Tommy John surgery? Most of us know about Reye’s syndrome, Osgood- Schlatter Disease, and Marfan Syndrome.
Here are a few of my favorites with a brief description and why I like eponymous designation:
Bell’s Palsy: Dr. Charles Bell was the Scottish anatomist who first described the facial nerve palsy that is usually caused by inflammation leading to dysfunction of the facial nerve on one side of the face and leading to drooping of that side of the face.
Charcot-Marie-Tooth Disease: This is often so commonly used as to be referred to by its acronym CMT disease. This hereditary disorder has become very well understood in recent years and the exact genetic mutations are able to be used to make specific diagnoses. These details were of course unknown to Dr. Jean-Marie Charcot, Pierre Marie and Howard Henry Tooth for whom the disorder was named when they described it in 1886.
Down’s Syndrome: Named after Dr. John Langdon Down, Down’s Syndrome is so much kinder and compassionate than the older Mongoloid terminology that Dr. Down used in 1866 when he described the condition.
Grave’s Disease: Named for Robert James Graves, this is the most common cause of hyperthyroidism, and is sometimes associated with bulging eyes called exopthalmos and deposition of material in the subcutaneous area of the legs causing what is called pretibial myxedema.
Hirschsprung Disease: named for Harold Hirschsprung, a Danish physician who described the condition. I’m happy not to have to call it congenital aganglionic megacolon which is far too much of a tongue twister.
Osler-Weber-Rendu syndrome: You have to love anything named after Sir William Osler. It must be pretty cool for Henri Jules Louis Marie Rendu and Frederick Parkes Weber to have their names also associated with the same eponymous disease. This is also known as HHT for hereditary hemorrhagic telangectasia. It is reasonably common, occurring in about 1:5000 people in most areas of the world. It is an autosomal dominant condition with genetic testing available for diagnosis when it is suspected.
Ramsay Hunt Syndrome: There are actually 3 different syndromes that are eponymous for Dr James Ramsay Hunt who described all of them. They have nothing else in common, and I think of Ramsay Hunt II syndrome when I hear this eponym. Ramsay Hunt II syndrome is a recurrence of the herpes zoster virus in the geniculate ganglion leading to some combination of Bells’ palsy, deafness, vertigo and pain on one side of the face. I had never heard of this condition, but a sharp neurologist friend recognized it immediately when I presented a case to him on the phone some years back. It’s nice to have smart friends. Thanks Dale.
Wolff-Parkinson-White syndrome: This eponymous disease is so commonly used that every med student knows of its acronym WPW syndrome as the subset of PSVT where there is a short PR interval and a delta wave on the QRS complex. Most don’t know it was named for Louis Wolff, Sir John Parkinson and Paul Dudley White.
I’d love to hear comments from those readers with favorite eponymous diseases. Let us all know y9our favorite epomymous disease, or your least favorite if you prefer.