Learn more about the medical cases the doctors of SGH have faced
By Meg Marinis, Director of Medical Research
- One young female.
- A psychiatric diagnosis (psychosis, acute schizophrenia, catatonia).
- Personality change.
- Unexplained headaches.
- Negative head CT.
- Negative basic labs.
- Normal physical examination.
Mix it all together, and what do you have? Yep. You got it: A good ol'fashioned medical mystery!
Janell's medical mystery began with severe "blinding" headaches.
These headaches were soon followed by seizures. Most people associate seizures with the generalized convulsions -- when the patient physically collapses and loses consciousness. However, Meredith could see that Janell actually experienced absence seizures – when the patient only loses consciousness for a few seconds and seems to stare blankly into space. The electroencephalogram (EEG) confirmed Meredith's theory in that Janell's seizures were continuing to occur, putting her at risk for permanent brain damage.
Meredith was suspicious that these seizures and changes could be caused by an infection in the brain. She did a lumbar puncture (commonly caused a spinal tap) and found that her cerebrospinal fluid contained increased white cells, but no bacteria. This ruled out meningitis, but, Meredith and Derek knew that Janell had some sort of encephalitis – irritation and inflammation in the brain. Symptoms of encephalitis include flu-like symptoms, fever, severe headaches, confused thinking, seizures, altered consciousness, and hallucinations (sound familiar?). They could start meds to make the inflammation go down, but without knowing the cause, they could not treat Janell's encephalitis (or stop her seizures). Meredith and Derek placed Janell into a medically-induced coma to help stop the ongoing seizures while they came up with a diagnosis. With this type of coma, drugs will reduce the cerebral blood flow and the amount of intracranial pressure. With the decrease in swelling, doctors hope that permanent brain damage may be prevented.
Meredith noticed that Janell had a hemolytic anemia. This type of anemia signifies a decrease of red blood cells in the body due to an autoimmune response. Antibodies present in Janell's body have launched an attack against these red blood cells, causing them to burst. Meredith had to ask: why is Janell's immune system suddenly on the offensive?
Meredith thought that if there was something attacking the red blood cells, perhaps there was something also attacking the brain. She decided to check for something called a "paraneoplastic syndrome." This is a syndrome where neurologic symptoms can be caused by some sort of cancer. She sent Janell's blood and CSF off for special studies, and Janell tested positive for anti-NMDA receptor antibodies. Janell was making antibodies that were attacking normal brain tissue!
Meredith knew that these anti-NMDA receptors indicated a teratoma.
A teratoma is a type of germ cell tumor that may contain several different types of tissue -- such as hair, muscle, and bone. The word "teratoma" is actually derived from the Greek word for "monster" because of their strange contents. They occur most often in the ovaries of women, the testicles in men, and the tailbone in children. Teratomas can be fairly small, often found accidentally during scans or surgery for other reasons. In Janell's case, Meredith and Bailey saw a tumor in Janell's lung. When tumors are found in that location, the diagnosis is usually one of six things (called the "6 T's"): thyroid lesions, thymic and parathyroid masses, "terrible" lymphoma, tortuous vessels (like a dissecting aorta), trauma, or, you guess it, the infamous teratoma.
Since Meredith had scanned Janell's entire body and they only saw this one tumor, which could very well be a teratoma, they decided to take that tumor out and hopefully solve the problem. Because of the location of the tumor, they couldn't just do a biopsy -- it was a major operation. Unfortunately the tumor was just a benign, insignificant mass, not the cause of this problem. So she went back to the drawing board. Different tumors have different tumor "predictors." Turns out, anti-NMDA receptor antibodies are most often found in the ovary. Even though Meredith didn't see anything there, she was pretty sure that there must be a microscopic tumor there, and since Janell was in such dire straits, she decided she would take the chance of sterility to try and save her life. Lucky for Meredith, she ended up being right.
Still, how does something in the ovary affect the brain?
Well, even though the teratoma ended up being found on one of Janell's ovaries, it has been theorized that these types of tumors can make any kind of cell – including brain cells. Janell's body confused these cells in the ovarian teratoma as foreign, attacked them, and then searched for others with the same genetic make-up. Finding more brain cells obviously in the brain, Janell's immune system attacked them as well, thus causing the encephalitis.
What kind of prognosis do these patients face?
In most of the studies that have been published, many of these patients have fully recovered after the teratoma was removed. The neurologic symptoms subsided, allowing these patients to wake from their comas and remain seizure-free. The healing process many be slow, but these patients can go on to live normal lives if diagnosed promptly and correctly.
For more information on teratomas in general, please visit: