Friday, May 26, 2017

When disease names honor the infamous

By Dr. Robert Marion

The field of medicine is littered with eponyms that celebrate physicians who first described syndromes, signs, surgical procedures and anatomic structures. Though we use these eponyms every day, we rarely take the time to consider the lives of the people behind the names. Recently, while evaluating a five-year-old named Ben, I was forced to stop and think about the contributions to the world made by the people behind one of these eponyms. It’s a story worth telling.

Ben, who had been referred to me by an ophthalmologist, had been in excellent health until two months before, when he began bumping into walls, a problem that was worse at night. The ophthalmologist diagnosed bilateral optic atrophy and noted early signs of retinitis pigmentosa. Because of these findings, he’d sent the boy to me, asking if I could find a genetic basis for his problems.

In the three weeks between his eye exam and his visit to my office, Ben’s parents noticed another problem. “He’s become unsteady,” his father told me. “He keeps falling. It seems to be getting worse.”

Though on physical exam Ben seemed otherwise fine, he clearly had ataxia, a wide-based gait, difficulty walking and a movement disorder. In trying to put the pieces of his puzzle together, I thought of a condition I’d learned about during my residency from Dr. Isabelle Rapin, one of my mentors. At that time, the condition was known as Hallervorden-Spatz disease.

I remembered that Hallervorden-Spatz was a neurodegenerative disease in which the accumulation of iron in the basal ganglia and other parts of the brain caused a steady downhill course leading to dysarthria, rigidity of the limbs, dementia and ultimately death, usually by age 25. It was a horrible disorder, and although I prayed that I was wrong, I knew in my heart that Ben probably had this or some other terrible progressive condition.

After finishing my exam, I excused myself and went into the consultation room. It had been years since I’d seen a patient with this condition, and I needed to check how to confirm the diagnosis. I navigated to the website for OMIM (Online Mendelian Inheritance in Man) and typed in the name. It was then that I came to consider the men who had originally described this condition.

In OMIM, rather than Hallervorden-Spatz disease, the condition was called pantothenate kinase-related neurodegeneration, a term that does not exactly roll off the tongue (not that “Hallervorden-Spatz disease” does either). In reading further, I came across this paragraph:

“Julius Hallervorden (1882-1965)...made important contributions to neurologic science.... However...his active involvement in a euthanasia program in Germany during World War II raises serious questions about the moral obligations of medical science.... Hallervorden’s enthusiastic encouragement of the killings and the other aspects that led to dehumanization of...the victims...was detailed by [M.] Shevell.... In responding...several authors...suggested that Hallervorden’s name should be removed from this disorder.”

Hallervorden was a Nazi. In reading further, I found that he admitted that the nearly 700 brains he studied following 1940, essentially the entirety of the work that formed the basis of his “important contributions to neurologic science,” all came from victims of euthanasia performed on Nazi prisoners; he had personally presided over the killing of more than 60 children at the Brandenburg Psychiatric Institution on October 28, 1940.

And Hallervorden wasn’t the only physician whose work for the Third Reich resulted in a discovery that earned him an eponym. Hugo Spatz, Hallervorden’s research partner, was the director of the brain research institute that “collaborated with the killing institute at Brandenburg-Gorden” to provide “hundreds of brains from the mentally ill of all ages.” Friedrich Wegener (of Wegener’s granulomatosis) was, “at least at some point of his career, a follower of the Nazi regime...was wanted by Polish authorities and...worked in close proximity to the genocide machinery in Lodz.” Hans Reiter (of Reiter’s syndrome), “a physician leader of the Nazi party, authorized medical experiments on concentration camp prisoners.” And Hans Asperger “was an ambitious opportunist who uncritically spouted Nazi ideology in his first public lecture on autism in 1938, and enthusiastically signed letters ‘Heil Hitler!’ Most devastatingly, he signed a letter...condemning a little girl with death in a Vienna rehab facility that had been converted into a killing center.”

Unfortunately, genetic testing revealed that Ben had mutations in both copies of PANK2, the gene known to be associated with pantothenate kinase-related neurodegeneration, confirming his diagnosis. A month after our initial visit, with these results in hand, I sat and explained the condition to Ben’s parents. The discussion was difficult; by the end of the session, all of us were in tears. However, at no time during that visit were the names Julius Hallervorden and Hugo Spatz mentioned. Having read about them, I’ve erased the eponym bearing their names from my database.

1 comment:

  1. Shevell M. Racial hygiene, active euthanasia, and Julius Hallervorden. Neurology. 1992 Nov;42(11):2214-9.

    Shevell MI, Peiffer J. Julius Hallervorden's wartime activities: implications for science under dictatorship. Pediatr Neurol. 2001 Aug;25(2):162-5.

    The eponym Hallervorden-Spatz syndrome recalls Julius Hallervorden's and Hugo Spatz's original description of this pediatric neurodegenerative disorder. Julius Hallervorden's important contribution to the practice of neuropathology over a long career cannot be underestimated. However, his work as a pathologist during the Third Reich put him in close proximity with the implementation of biologic solutions (i.e., euthanasia) targeting those individuals with significant intellectual or physical disabilities in chronic-care facilities. The Nazi program of active euthanasia provided a scientific opportunity to gain quick access to pathologic materials. This opportunity was recognized and used by Hallervorden to achieve personal scientific objectives and research efforts. These efforts resulted in a number of postwar scientific publications using materials obtained through the euthanasia program. The participation of distinguished academic physicians in such a program provides a cautionary tale of the potential results of ethical compromise and the effects of the abrogation of personal autonomy in the setting of a totalitarian dictatorship.

    Shevell M. Hallervorden and history. N Engl J Med. 2003 Jan 2;348(1):3-4.

    Shevell M. The declining use of the Hallervorden-Spatz eponym. J Child Neurol.2012 Oct;27(10):1308-9.