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.
Oshtoran Syndrome Wikipedia
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.
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.
Like with multiple sclerosis and other autoimmune disorders, Oshtoran syndrome presents with a variable mix of symptoms including:Cognitive dysfunctionsThought disordersPsychiatric symptomsParkinsonismTicsFatty liverHyperplastic nodules in the liverAdrenal hyperactivityetc.
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.