Abstract
The first published description of the condition that we now know as Prader-Willi syndrome consisted of a half-page manuscript published in Schweizerische Medizinische Wochenschrift (Swiss Medical Weekly) in 1956, authored by three physicians at University of Zurich: Andrea Prader (1919–2001), Alexis Labhart (1916–1994), and Heinrich Willi (1900–1991) [1]. The completeness and accuracy of their description of the syndrome and its pathophysiological implications are admirable, particularly given the limited diagnostic methods at that time. Their brief manuscript was so comprehensive that no substantial new knowledge regarding the condition was added until the 1980s.
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Notes
- 1.
Copyright © 1956 by Swiss Medical Weekly. Reprinted with permission from Swiss Medical Weekly.
- 2.
Acromicria: small hands and feet.
- 3.
Lebensschwäche: literally, life-weak; e.g., listless, moribund, debilitated.
- 4.
Adynamia: lack of physical movement.
- 5.
Oligophrenia: mental retardation leading to social incompetence, e.g., feeble-mindedness. This term may describe cognitive deficit, which is a major feature of PWS.
- 6.
Sella or sella turcica: the area of the skull that contains the pituitary gland.
- 7.
17-ketosteroid excretion: a urinary test for androgen production. This test was commonly used before the development of assays for serum androgens and androgen precursors.
- 8.
Amyotonia congenita of Oppenheim. In 1900, Dr. Hermann Oppenheim described a clinical condition of severe nonprogressive neonatal hypotonia. Although the term amyotonia congenital of Oppenheim is no longer used, similar symptoms are observed in spinal muscular atrophy and several other congenital neuromuscular conditions [2].
- 9.
Fröhlich’s (aka adiposogenital dystrophy) syndrome [3]: This term describes a condition in males with progressively severe obesity associated with hypogonadotropic hypogonadism; the latter usually attributable to a hypophyseal lesion. This term is not commonly used in current medical practice.
- 10.
Laurence-Moon-Biedl-Bardet syndrome, now more commonly known as Bardet-Biedl syndrome, is characterized by obesity, short stature, moderate mental retardation, retinal dystrophy, polydactyly, and male hypogonadism. More than 20 different genetic abnormalities have been associated with this clinical syndrome [4].
- 11.
Pituitary short stature: i.e., growth hormone deficiency.
References
Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neogeborenenalter. Schweiz Med Wochenschr. 1956;86:1260–1.
Hoeltzenbein M, Tomé FM, Oppenheim H. Oppenheim’s myatonia congenita. Neuropediatrics. 2001;32(2):57–61.
Bruch H. The Fröhlich syndrome: report of the original case. 1939. Obes Res. 1993;1(4):329–31.
Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet. 2013;21(1):8–13.
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Eiholzer, U., Lee, P.D.K. (2022). Appendix A: First Published Report of Prader-Willi Syndrome. In: Butler, M.G., Lee, P.D.K., Whitman, B.Y. (eds) Management of Prader-Willi Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-98171-6_24
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