Oshtoran Syndrome
Oshtoran Syndrome
Oshtoran Syndrome is a rare heritable neurological disorder with additional 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 additional issues which are caused by disturbed signalling functions in the nervous and additional systems due to functional changes in a part of the immune system.
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 a large number of aspects yet not understood.
Differential diagnosis and cause
As there are additional conditions that might 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.
Symptoms
Like with multiple sclerosis and additional autoimmune disorders, Oshtoran syndrome presents with a variable mix of symptoms including: [1]
Cognitive dysfunctions
Thought disorders
Psychiatric symptoms
Parkinsonism
Tics
Fatty liver
Hyperplastic nodules in the liver
Adrenal hyperactivity
etc.
Treatment
There is no treatment available that's able to cure the disorder itself.
Notwithstanding 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.