I lost my vision and became mute after developing a 'trifecta' of brain disorders

Daily Mail​

6 days ago

A Hawaiian woman who experienced a cascade of medical problems, including blindness and muteness was unknowingly suffering from a trifecta of neurological conditions at once.
The 37-year-old woman appeared at a Honolulu emergency room after suddenly losing vision in her right eye.
She had a history of Myasthenia Gravis (MG), an autoimmune disorder affecting the brain that causes intermittent muscle weakness in the neck, face, and limbs, but vision loss isn't typically common with the condition.
Doctors later discovered that the optic nerve connecting her eyes to the brain was inflamed and the protective barriers around nerve cells in the spinal cord were breaking down. They diagnosed her with a second neurological autoimmune disorder, neuromyelitis optica (NMO).
Two years later, she became depressed and unresponsive. She stopped speaking and seemed to ignore or not hear her doctors' commands.
Comprehensive testing revealed she was suffering from a third autoimmune condition, anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, that caused brain inflammation and disrupted normal signaling, leading to new psychological problems.
Doctors rarely see patients with overlapping neurological autoimmune disorders, according to NIH-funded research. Because many of them share similar symptoms, doctors are prone to missing a diagnosis or attributing it to one the patient has already received from another provider.
These conditions are already rare on their own. MG affects around 20 out of every 100,000 people worldwide. While NMO afflicts around one in 100,000 and there are just about one to two cases of NMDAR per million people per year.
The Hawaiian doctors said their case highlights the need for providers to consider the possibility that their patients are contending with chronic, harder-to-diagnose neurological conditions.
The patient was diagnosed with MG 10 years earlier, leading to frequent debilitating muscle weakness.
In cases of MG, the body's own cells attack healthy receptors located where nerves meet muscles, triggering a cascade of processes that facilitate muscle contraction.
From walking to chewing, MG can affect any muscle system. Up to 20 percent of patients' lung muscles will weaken to the extent that they have trouble breathing on their own and require a ventilator.
Losing vision in one eye, though, is not a typical symptom.
When doctors investigated, not only was the optic nerve enlarged and inflamed, but scans of the woman's spine revealed that the myelin sheaths protecting nerve fibers were degrading.
They detected antibodies commonly found in cases of NMO, which attack proteins in astrocytes – cells that protect brain cells.
Attacks on proteins in astrocytes can enable inflammatory cells to enter the central nervous system, exacerbate brain inflammation, and initiate the breakdown of the blood-brain barrier.
Over the long term, this can lead to vision loss, chronic brain inflammation, paralysis, and permanent brain damage.
Two years later, the doctor reported the woman came to the hospital again with 'significant behavioral changes, including neglecting her usual activities and displaying diminished responsiveness.'
'She became mute and uncooperative with commands,' doctors added.
Doctors suspected they were dealing with a case of anti-NMDAR encephalitis, a condition in which the body's immune cells attack NMDA receptors in the brain, which act like a switch for strengthening or weakening brain connections that are crucial for memory and learning.
NMDA receptors also regulate brain signaling, helping brain cells communicate with one another.
Low levels of receptor activity has been linked to schizophrenia, causing psychosis and hallucinations, depression, bipolar disorder, and anxiety.
Doctors conducted comprehensive lab tests, imaging, assessments and a test of her cerebral spinal fluid, which confirmed the third neurological autoimmune diagnosis.
'This case underscores the critical need for clinicians to remain alert to overlapping neurological conditions, enabling timely diagnoses and interventions that can help improve clinical outcomes and prevent unnecessary delays in treatment,' doctors wrote in the American Journal of Case Reports.
The combination of three autoimmune disorders is called multiple autoimmune syndrome. One of these disorders typically affects the skin, usually in the form of vitiligo or alopecia.
But a single patient having the disorders that the Hawaiian woman has is far less common than co-occurring general autoimmune conditions, like rheumatoid arthritis or Hashimoto's thyroiditis.
About 25 percent of people with one autoimmune disease develop another, and patients are more often female.
They each target distinct cells within the body and have differing underlying triggers.
NMDAR, for example, is often the result of a tumor producing NMDA receptors, and the immune system attacks those made by the tumor, as well as those in the healthy brain. Doctors did not report whether their patient had a history of cancer, though.
NMO, meanwhile, is not linked to cancer, and antibodies target proteins in astrocytes, which are found in the optic nerves and spinal cord.
The woman was treated with a plasma exchange treatment, which filters out harmful antibodies from the blood. Once doctors did this, her brain swelling and function improved.