Oshtoran Syndrome

Oshtoran Syndrome is a rare heritable neurological disorder with other organ systems involved as well, especially the liver, and the sympathetic nerve system. Patients suffering of Oshtoran Syndrome present symptoms affecting their cognitive functioning, psychiatric health, movement control, liver (fatty infiltration, hyperplastic nodules), fat metabolism, abnormal adrenal gland functioning and other issues which are caused by disturbed signalling functions in the nervous and other systems due to functional changes in a part of the immune system connected to a kynurenine pathway dysfunction.[1][2][3]

Origin of the name

The condition is named after Mount Oshtoran in Lurestan where the first known patient had its origin. It is an orphan disease with many aspects yet not understood.[4][5]

Differential diagnosis and cause

As there are other conditions that may have a similar clinical presentation, diagnostic workup of individuals suspected of Oshtoran should exclude Sydenham's chorea, lupus erythematosus, autoimmune disorders, liver diseases, schizophrenia, dementia, and Tourette syndrome. Oshtoran syndrome is currently believed to be caused by an inherited hyperactivity of the inert part of the immune system, leading to alterations in several organ functions like the kynurenine and glutamate metabolism, T-cell activation, fat metabolism etc.[6][7][8][9]

Symptoms

Like with multiple sclerosis and other autoimmune disorders, Oshtoran syndrome presents with a variable mix of symptoms including:[10][11][12]

Treatment

There is no treatment available that is able to cure the disorder itself. However, medical treatment of the symptoms is possible and needs to be custom-tailored for the individual patient. Further research is warranted, however unlikely due to the limited number of patients.[13]

References

  1. ↑ Hoekstra PJ, Anderson GM, Troost PW: Plasma kynurenine and related measures in tic disorder patients. Eur Child Adolesc Psychiatry. 2007 Jun;16 Suppl 1:71-7
  2. ↑ Abdollahi, Mostafa: Case Study Oshtoran Syndrome (non published study), March 23, 2016
  3. ↑ Zafarian, Hamed: Abnormal blood test results in patients with Oshtoran Syndrome. Preliminary results. IORG Internal Paper XXII/c (May 2016)
  4. ↑ Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Iran
  5. ↑ Fatemi, Clayton: The Medical Basis of Psychiatry. Third Edition. Humana Press, 2008
  6. ↑ Saito Y, Hayaishi O, Rothberg S: Studies on Oxygenases. The Journal of Biological Chemistry 229 (2)
  7. ↑ Ikwunga Wonodi, MD; O. Colin Stine, PhD; Korrapati V. Sathyasaikumar etal.: Downregulated Kynurenine 3-Monooxygenase Gene Expression and Enzyme Activity in Schizophrenia and Genetic Association With Schizophrenia Endophenotypes. Arch Gen Psychiatry. 2011;68(7):665-674
  8. ↑ Brian M.Campbell, Erik Charych,Anna W. Lee, Thomas Möller: Kynurenines in CNS disease: regulation byinflammatory cytokines. Frontiers in Neuroscience. Neuroendocrine Science February 2014, Volume 8, Article 12
  9. ↑ David C Pryde, Michael J Palmer: Orphan Drugs and Rare Diseases. Royal Society of Chemistry, 2014
  10. ↑ Collection of studies by the International Oshtoran Synsrome Research Group
  11. ↑ Eoin P. Flanagan, Andrew McKeon, Vanda A. Lennon, et al.: Autoimmune Dementia. Mayo Clin Proc. 2010;85(10):881-897
  12. ↑ Oshtoran Syndrome. What do we know? IORG presentation. Retrieved July 16, 2016
  13. ↑ Research Group Hekmatan
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