Ep-PAINE-nym



Wilms Tumor

 

Other Known Aliasesnephroblastoma

 

DefinitionThe most common childhood primary renal tumor and can occur due to a mutation in the WT-1 cancer suppressor gene on 11p13.  There are five clinical stages depending on anatomical findings and tumor cell pathology.

 

Image result for wilms tumor

 

 

Clinical SignificanceCurrent estimates are around 500 new cases in the US per year and can be associated with several other genetic conditions including, WAGR syndrome, Denys-Drash syndrome, and Beckwith-Wideman syndrome.   Most children, who are later diagnosed with a Wilm’s tumor, present with an asymptomatic abdominal mass easily palpable by the provider.   Ultrasound is the initial screening test of choice, though MRI can be help in staging.  A renal biopsy will confirm the diagnose and definitively stage the disease in order to select the best treatment modalities.

 

 

History – Named after Carl Max Wilhem Wilms (1867-1918), a German pathologist and surgeon,  who earned his medical doctorate from the University of Bonn in 1890.  He was a prolific surgeon and medical educator rising to the ranks of chair of surgery at the University of Heidelberg in 1910.  He published his findings of the renal tumor that bears his name in 1899 in the article entitled “Die Mischgeschwülste der Niere”.  There is some controversy on who identified this tumor first as Thomas Rance may have written on it in 1814, but it was not very specific and could be attributed to other renal malignancies.   Felix Birch-Hirschfeld and colleagues also identified and wrote on what they believed to the first description of this tumor, but Wilms’ manuscript seemed to be more broadly noted in the literature and eventually came to bear his name.  

 

Image result for Die Mischgeschwülste der Niere

 

 


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Wilm’s Tumor.  National Cancer Institute. https://www.cancer.gov/types/kidney/hp/wilms-treatment-pdq#link/_1
  6. Up To Date. Accessed April 21, 2018.  www.uptodate.com
  7. Coppes-Zantingal AR.  Max Wilms and “Die mischgeschwülste der Niere”.  CMAJ.  199;160(8):1196. [pubmed]
  8. Coppes AR.  Dr. Carl Max Wilhelm Wilms.  HemOnc Today.  2008.  https://www.healio.com/hematology-oncology/pediatric-oncology/news/print/hemonc-today/%7B05646a17-7a0c-4a39-a0db-62fd83e0d628%7D/dr-carl-max-wilhelm-wilms-1867-1918

Ep-PAINE-nym



Crigler-Najjar Syndrome

 

Other Known Aliasesfamilial/hereditary nonhemolytic unconjugated hyperbilirubinemia

 

DefinitionRare, familial condition resulting in congenital hyperbilirubinemia secondary to a deficiency of glucuronyl transferase.  There two types, with type I being very rare and severe (absolute absence) and type II being more common and less severe (relative deficiency)

Image result for bilirubin metabolism

 

Clinical Significance – Congenital hyperbilirubinemia can have catastrophic effects on the infant including jaundice, lethargy, failure to thrive, hypotonia, kernicterus, and acute bilirubin encephalopathy once it saturates and binds to the brain tissue.

 

History – Named after:

1) John Fielding Crigler (1919-), who is an American pediatrician who earned his medical doctorate at Duke University in 1943 and practiced at the Children’s Hospital of Boston.

2) Victor Assad Najjar (1914-), who is a Lebonese-born, American pediatrician who earned his medical doctorate at the American University in Beirut and practiced at Johns Hopkins, Vanderbilt, and Tufts University.

 

They published their findings of a new disease causing congenital familial nonhemolytic jaundice with kernicterus in 1952.

 


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Crigler-Najjar Syndrome.  Genetics Home Reference. https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome#synonyms
  6. CRIGLER JF, NAJJAR VA. Congenital familial nonhemolytic jaundice with kernicterus; a new clinical entity. A.M.A. American journal of diseases of children. 1952; 83(2):259-60. [pubmed]

Ep-PAINE-nym



Kayser-Fleischer Rings

 

Other Known Aliasesnone

 

Definition1-3mm, grey/green/brown pigmented ring in the Descemet membrane of the cornea.  It first appears at the 12 o’clock position in early disease, then a second crescent forms at 6 o’clock, and then finally completely encircling the cornea.

 

Kayser-Fleischer ring.jpg

 

Clinical Significance – This is pathognomonic for Wilson’s disease, but does not cause any symptoms with the patient.  They are often identified on good ophthalmic examinations.

 

History – Named after Bernhard Kayser (1869-1954) and Bruno Fleischer (1874-1965), who were both German ophthalmologists and contemporaries of each other.  Dr. Kayser received his medical doctorate at the University of Berlin in 1893 and practiced as a specialized ophthalmologist in Stuttgart, Germany for the majority of his career.  Dr. Fleischer received his medical doctorate at the University of Tübingen in 1898 and practiced there earning a reputation as an extraordinary professor.  Each published their findings in Klinische Monatsblätter für Augenheilkunde within a year of each other (1902 and 1903), but erroneously posited that it was due to silver accumulation.  The first published report of copper being the causative agent was in 1934 by Dr. Werner Gerlach and Willhelm Rohrschneider.

 

 


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Schrag A, Schott JM. Images in clinical medicine. Kayser-Fleischer rings in Wilson’s disease. NEJM. 2012; 366(12):e18. [pubmed]
  6. Dusek P, Litwin T, Czlonkowska A. Wilson disease and other neurodegenerations with metal accumulations. Neurologic clinics. 2015; 33(1):175-204. [pubmed]
  7. Kayser B. “Über einen Fall von angeborener grünlicher Verfärbung des Cornea”. Klin Monatsbl Augenheilk. 1902;40(2):22–25.
  8. Fleischer B. “Zwei weitere Fälle von grünlicher Verfärbung der Kornea”. Klin Monatsbl Augenheilk. 1903;41(1):489–491
  9. Gerlach W, Rohrschneider W. “Besteht das Pigment des Kayser-Fleischerschen Hornhautringes aus Silber?”. Klin Wochenschr. 1934;13: 48–49

Ep-PAINE-nym



Wilson’s Disease

 

Other Known Aliases – progressive hepatolenticular degeneration

 

DefinitionAutosomal recessive condition that causes impaired copper metabolism leading to intoxication due to a mutation in the chromosome 13q14 resulting in faulty ATP7B protein production.

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Clinical SignificanceA rare, but devastating, disease if not identified early in its course.  It can effect multiple systems including:

  • Hepatic – elevated transaminases to fulminant liver failure
  • Hematologic – hemolytic anemia, jaundice
  • Neurologic – athetosis, tremors, dystonia
  • Psychiatric – behavior changes, learning difficulties
  • Ocular – Kayser-Fleischer rings (more on this next week)

Image result for wilson's disease

History – Named after Samuel Alexander Kinnier Wilson (1878-1937), who was an American-born, British neurologist.  He received his medical degree from the University of Edinburgh Medical School in 1902 and studied neurology with Joseph Babinsky at the Salpétriére Hospital in Paris before relocating back to London for the duration of his medical career.   He is also credited with introducing the neuropsychiatric term “extrapyramidal” into the medical lexicon.  He described his eponymous disease in his 1912 medical dissertation where it gained its notoriety, but was first recorded in 1854 by Friedrich Theodor von Freichs.

Samuel Alexander Kinnier Wilson.jpg


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson’s disease: A review of what we have learned. World journal of hepatology. 2015; 7(29):2859-70. [pubmed]
  6. Patil M, Sheth KA, Krishnamurthy AC, Devarbhavi H. A review and current perspective on Wilson disease. Journal of clinical and experimental hepatology. 2013; 3(4):321-36. [pubmed]
  7. Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders. The Lancet. Neurology. 2015; 14(1):103-13. [pubmed]
  8. Kinnier Wilson SA.  Progressive Lenticular Degeneration: A Familial Nervous Disease Associated with CIrrhosis of the Liver.  Brain. 1912;34(4):295-507

Ep-PAINE-nym



Hodgkin’s Lymphoma

 

Other Known Aliasesnone

 

Definition – Type of lymphoma predominantly from lymphocytes that arise from germinal center or post-germinal center of B cells

 

Clinical SignificanceAccounts for 10% of all lymphomas and 0.6% of all cancers.  It is also associated with a bimodal age distribution of young adults (20s) and older adults (60s), with a slight male predominance.  Epstein-Barr virus is the most common causative agent and it carries a favorable prognosis.

 

History – Named after Thomas Hodgkin (1798-1866), who was British physician and considered one of the most prominent pathologists of his time.  He was also a perpetual student constantly learning new techniques including being an early adopter of the stethoscope anda fervent advocate for preventative medicine.  He first described his findings on his eponymous disease in 1832, but it wasn’t until 33 years later when another British physician, Samuel Wilks, “re-discovered” the disease and Hodgkin’s work did it gain any traction and recognition.

 

Thomas Hodgkin photo.jpg

 


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Hodgkin Lymphome.  British Medical Journal – Best Practice. http://bestpractice.bmj.com/topics/en-us/311
  6. Hodgkin T.  On Some Morbid Appearances of The Absorbent Glands and Spleen.  Med Chir Trans.  1832;17:68-114.

Ep-PAINE-nym



Auer Rods

 

Other Known Aliasesnone

 

Definition – Auer rods are azurophilic granules found in the cytoplasm of leukemic blast cells and are composed of fused lyosomes.

 

Image result for auer rods

 

Clinical SignificanceThese are found in high grade myelodysplastic and myeloproliferative syndromes and are pathognomonic for acute myelogenous leukemia (AML).

 

Image result for auer rods

 

History – Named after John Auer (1875-1948), an American physiologist and pharmacologist, who held appointments at Johns Hopkins Hospital, Rockefeller Institute for Medical Research, and the St. Louis School of Medicine. He first described these structures in a 21yo male who was suffering from a sore throat and nosebleed and admitted to Sir William Osler’s service for work-up.  He published this finding in 1906, but were first described by a colleague of his at Johns Hopkins Hospital, Thomas McCrae.  Interestingly, they both erroneously thought that the cells containing these structures were lymphoblasts, not myeloblasts.

 

Image result for john auer rods

scanned image of page 404


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Gordon SW, Krystal GW. Auer Rods. NEJM. 2017; 376(21):2065. [pubmed]
  6. Auer J. Some hitherto Undescribed Structures Found in the Large Lymphocytes of a Case of Acute Leukemia. AJMS. 1906;131(6):1002-1014 [article]
  7. McCrae T. Acute Lymphatic Leukemia, with Report of Five Cases. BMJ. 1905; 1(2304):404-8. [pubmed]
  8. John Auer. http://www.iqb.es/historiamedicina/personas/auer.htm

Ep-PAINE-nym



von Willebrand Disease

 

Other Known Aliaseshereditary pseudohemophilia

DefinitionAutosomal dominant, hereditary clotting disorder arising from a deficiency in the quantity and/or quality of von Willebrand factor (vWF), which is a protein required for protein adhesion and involved in primary hemostasis.  The genetic defect responsible for vWF production the vWF gene located on the short arm p of chromosome 12 (12p13.2).

Image result for von willebrand factor

 

Clinical SignificanceThis is the most common type of hereditary blood-clotting disorder in humans, with 3 main hereditary types and multiple subtypes.  Type 1 is the most common and often asymptomatic, Type 2 can have mild to moderate symptoms, Type 3 is the most severe and can manifest with hemarthosis and internal bleeding. 

History – Named after Erik Adolf von Willebrand (1870-1949), a Finnish physician graduating from the University of Helsinki 1896, and who took a special interest in hematology and coagulation.  In 1924, a 5yo girl was brought to him due to a bleeding disorder and he successfully performed a family history map on the girl’s 66 living family members and discovered the autosomal dominant pattern.  He published his findings in 1926 in Swedish calling it “pseudo-hemophilia”, but it wasn’t until 1931 (when it was translated into German) did it gain any traction in the medical community.

 

 


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Von Willebrand EA. Hereditary pseudohaemophilia. Haemophilia. 1999; 5(3):223-31. [translation of original paper] [pubmed]
  6. Leebeek FW, Eikenboom JC. Von Willebrand’s Disease. NEJM. 2016; 375(21):2067-2080. [pubmed]
  7. Nilsson IM. Commentary to Erik von Willebrand’s original paper from 1926 ‘Hereditär pseudohemofili’. Haemophilia. 1999; 5(3):220-1. [pubmed]