Oshtoran Syndrome

Fatty liver

Oshtoran Syndrome is a rare heritable neurological disorder with other organ systems involved as well, especially the liver, and the sympathetic nerve system. Patients suering of Oshtoran Syndrome present symptoms
aecting their cognitive functioning, psychiatric health,
movement control, liver (fatty inltration, 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]

Hyperplastic nodules in the liver

Adrenal hyperactivity
etc.

4 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]

Origin of the name

The condition is named after Mount Oshtoran in Lurestan

where the rst known patient had its origin. It is an orphan
disease with many aspects yet not understood.[4][5]

5 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

Dierential diagnosis and cause

As there are other conditions that may have a similar clinical presentation, diagnostic workup of individuals suspected of Oshtoran should exclude Sydenhams 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]

[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)

Symptoms

[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

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

[8] Brian M.Campbell, Erik Charych,Anna W. Lee, Thomas

Mller: Kynurenines in CNS disease: regulation byinammatory cytokines. Frontiers in Neuroscience. Neuroendocrine Science February 2014, Volume 8, Article
12

Thought disorders
Psychiatric symptoms
Parkinsonism

[9] David C Pryde, Michael J Palmer: Orphan Drugs and

Rare Diseases. Royal Society of Chemistry, 2014

Tics
1

[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

REFERENCES

Text and image sources, contributors, and licenses

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Oshtoran Syndrome Source: https://en.wikipedia.org/wiki/Oshtoran_Syndrome?oldid=731221834 Contributors: SwisterTwister, Me,

Myself, and I are Here, Oshteam and Anonymous: 4

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