Sunday, September 1, 2013

Teratoma: One Patient One Disease?

Left, Science Source/Photo Researchers; right, Dr. P: Marazzi/Photo Researchers
White blood cells (left) in the patient's spinal fluid suggested an infection; an X-ray of a teratoma with a tooth (right).

In the New York Times on the 7th of November 2008:

Brain Drain By LISA SANDERS, M.D.

This happened a year ago:

“Dr. Rachel Clark could see the patient through the glass walls of the Massachusetts General Hospital intensive-care unit. A young woman lay on the bed, unconscious. The girl’s mother sat next to her, stroking her head. Just minutes earlier Clark’s pager called her to this ward filled with the sickest patients. The text read: “Unresponsive patient in the I.C.U. Possible Gyn etiology. Please respond asap.” As she made her way through the hospital, Clark, a first-year resident in obstetrics and gynecology, tried to imagine what kind of problem would lead critical-care specialists to call on her to help with a patient in a coma.

“The 26-year-old woman fell ill two months earlier, her mother told Clark. It started with a headache — the worst of her daughter’s life. Her mother took her to the emergency room near their hometown in rural Maine. The doctors there thought it was a migraine and gave her something for the pain. It didn’t help.

“Over the next 10 days her daughter saw six different doctors, had many blood tests and scans and tried a dozen medicines. No one had a diagnosis or a cure.

‘There’s something wrong in my head,’ the young woman kept repeating. ‘It’s just not right.’

“On their last trip to the emergency room, her daughter went crazy. She was talking to people who weren’t there. She was afraid, paranoid. Then suddenly she became violent, lashing out at everyone around her. ‘They told me she was having a psychotic break, that she probably had schizophrenia,’ her mother reported, the horror of that night still audible in her voice. The patient was taken to a psychiatric hospital. A few days later she developed a fever and was sent to yet another hospital. There she had a seizure. After that, she never woke up. She was finally transferred to Massachusetts General in Boston. But even here the doctors had found no answers.”

“The young woman had a history of migraines but was otherwise healthy. She took no medications. She worked in an office and lived with her parents. On exam she no longer had a fever. Her eyes were sometimes open, but she was completely unresponsive, even to pain.”
All investigations drew a blank and out of desperation, the team ordered a CT scan of her body. A tiny cyst was found on her left ovary: A TERATOMA.

One resident was creative to suggest that this tiny cyst, known as a teratoma, could be the cause of her coma.

“Clark searched the medical literature, eventually finding an article, published just months earlier, that described 12 women with what the paper’s author called ovarian teratoma encephalitis. The women had headaches and psychiatric symptoms and became comatose. Each was ultimately found to have a teratoma. Remarkably, most of these women recovered fully once the cyst was removed. Clark was amazed.

Ovarian teratoma encephalitis is so rare that it is still not well understood, but the author of the paper theorized that these particular tumors — which have the potential to grow any type of cell in the body — develop primitive brain cells. Somehow the immune system mistakenly identifies these cells as “foreign” and makes antibodies to destroy them. These antibodies go on to attack the same kind of cells in the brain.

Clark said she felt certain this was what the patient had.

“But the other doctors caring for the patient were skeptical. Every year thousands of patients develop some kind of encephalitis. It’s quite likely that some small percentage of these patients will have one of these common cysts, and yet, for most, the two conditions will be completely unrelated. There have been only a handful of cases that have linked a teratoma and encephalitis over the past 11 years. The odds of this patient falling into that category were infinitesimally small.”

“But Clark persisted. A sample of the patient’s blood was sent to the author of the paper to have him look for the antibody he found in his patients. If that test was positive, then they would take out the tumor.”

“For the next two weeks, Clark checked for the results daily. She eventually discovered that the blood was never tested. Clark almost cried with frustration. While they had been waiting for these results, the patient became even sicker.”

“Another OB-GYN, Dr. Rebecca Kolp, was now in charge of Clark’s team. Clark sought out the doctor and described the patient and what she’d found in her research. She told her about the lost test. Should they wait another two weeks, or should they operate now?”

“Kolp thought about it for only a moment. The intern made a strong case, and although it seemed an unlikely diagnosis, Kolp thought it was worth the risk. Would the girl’s mother be willing to let them operate on her daughter? The mother agreed to the operation immediately. The girl had been sick for so long and seemed only to be getting worse. That afternoon, Kolp removed the tumor.”

“The next morning it was still dark when Clark arrived at the I.C.U. As she entered the patient’s room she called out the young woman’s name in a hushed voice. No response. The doctor checked the surgical site — it looked fine — and then tried once more to rouse the young woman. No change. Her heart sank. In the paper she’d read, recovery was rapid — often within hours of the operation.

“At rounds, Clark told Kolp that the patient was no better. The attending physician was disappointed but not surprised. They had done all they could. But later that morning Kolp phoned Clark. ‘Rachel, you’re not going believe this,’ she reported excitedly.

‘Your patient is awake.’

“Rachel Clark was elated. Just a few months into her residency, she diagnosed a rare disease, one that she figured she would never see again.”

“A year later another patient arrived with the same story of headache, psychosis and coma. A CT scan revealed a teratoma, and she was operated on the next day. This patient also recovered. It’s worrisome, Kolp said. ‘It makes you wonder how many other woman are languishing out there who might be saved.’”
It is incredible how closely my teratoma case (as described in
The Cockroach Catcher) mirrored Dr Rachel Clark’s cases. Now, after thirty years, the mystery of why my patient was in coma after surgery is solved!
My comment about the case was:

I have often wondered if it would be such a disservice to mankind if doctors were not so understanding of the psychological side of things.The possibility of a serious illness being missed is of course a major concern when a patient seeks help for one reason or another. To put psychological conditions at the top of the list of possible diagnosis is dangerous.”I can well understand what a difficult position Dr Rachel Clark found herself in, to be the lone voice against traditional thinking in the diagnosis of a tricky case. We need such courage amongst our young doctors, but for their own good, perhaps not during their finals viva!
To remember our eminent yet formidable Professor of Medicine, Professor MacFadzean: One Patient One Disease.

Links: The Jobbing Doctor Shared Items

Grand Rounds this week is at Dr. Deb

Cahalan's new memoir is called Brain On Fire-My Month of Madness.                                

Chapter 29  The Power of Prayers                                       

Brain on Fire      


Anonymous said...

I have been having migranes (the first of my life) the past 4 months. Also dizziness and visual disturbances. And facial numbness. They thought I had an aneurysm, they couldn't find it. I know that I am going to die, or go crazy, but I am also begging to experience and increased state of consciousness. I have had 2 misscarriages, I know there are cysts on my ovaries, I don't know what type, I also have a lipoma in my brain just above my brainstem. My mom heard about this condition in class. Please help me, this makes sense. I feel like I'm going crasy. I feel constant pressure in my head and neck please contact me if you can help...

Cockroach Catcher said...

Medical blogs are there to inform and share and not for dealing with individual cases. Please consult your own physician. Really sorry.

Anonymous said...

This case brought back back memories of my own medical school dates when I was a classmate of Dr. Zhang. Both of us were attending a small group seminar on Gynaecology, and I fell asleep in front of six students and Dr. Carol Bragar, the teacher. I was rudely wakened up and was tested by Dr. Bragar with this question: "What would you see in an X-ray picture of a teratoma?" I answered: "Tooth", and fell right back into sleep.

People often wonder why psychiatrists have to study medicine first. The answer is quite obvious: it is artificial, and dangerous, to separate mind and body to the extent that we would miss the diagnosis of serious bodily illness when assessing someone for a suspected mental illness. Too often the suspicion of a mental disorder is based simply on the absence of physical basis of a cluster of symptoms. The psychiatrist must decide for himself/herself and not totally rely on a "negative" finding of another physician.