By Lauren Hull, Twitter: @biophilicbios
Note: This story is based on a case study of a 19 year old patient’s diagnosis, treatment and recovery. See links and resources for further information.
A 19 year old girl wakes in an emergency room. Was she in a car accident? Did a dare at a party go wrong? No. She had a seizure. The first seizure of her life. In the middle of class. It would take days to discover the culprit, a newly recognized and rare auto-immune disease called Anti-NMDA receptor encephalitis. Her diagnosis, treatment and recovery are one of those more happy endings we hope for. An ending that 24% those diagnosed aren’t so lucky to have.
Two weeks before she woke in the emergency room, she had headaches. Face and hands tingling kind of headaches. Feeling like your head and heart are filled with hot coals kind of headaches. Apparently these were early signs of the encephalitis, or brain inflammation, taking hold. In post-emergency-room consults with a neurologist, worrisome symptoms like memory problems, erratic emotional changes (called emotional lability) and hearing non-existent music came to light. These conditions landed her an electroencephalogram or EEG, a test using electrodes that tracks brain waves to evaluate brain function. Her results, evidence of prolonged seizures called status epilepticus, sent her back to the hospital.
She was diagnosed with anti-NMDA receptor encephalitis on her sixth day in the hospital. Four days prior, she received a lumbar puncture, or spinal tap. A needle inserted in her lower back collected spinal fluid from the subarachnoid space, a superhighway that transports spinal fluid between the spinal cord and brain. Though initial tests of the fluid came back normal, further tests revealed the cryptic quick-working culprit, which in those four days had increased her emotional outbursts and stolen her ability to complete sentences.
Her own antibodies, weapons used by the body’s immune system to ward off disease, were attacking NMDA receptors in her brain. These NMDA receptors control electrical impulses that allow the brain to conduct critical functions, such as forming and recalling memories, making judgments and controlling unconscious functions of the body, like breathing. Doctors administered pulse-dose steroids and plasmapheresis, a process similar to dialysis in which the liquid portion of blood, called plasma, is separated and replaced by other plasma or plasma substitute. By removing the plasma, doctors removed many of the antibodies (the anti-NMDA part of the disease) which were attacking the NMDA receptors.
The antibodies impacted her ability to maintain a normal heart rate. On day 12 in the hospital, doctors implanted a pacemaker to return her heart to a normal rhythm. But the implications of the disease had not yet run their course. The next day doctors removed her right ovary, which was hosting a tumor commonly found in female patients with anti-NMDA receptor encephalitis. Though research has not confirmed such tumors as the cause of this disease, doctors find that patients whose tumors are removed recover faster.
She improved, however slowly. Her thoughts became clearer. Her memory improved. Thirty-one days later, doctors removed her pacemaker. Her heart kept its beat. The disease waned. Five months following her discharge from the hospital, she was the girl she used to be. She performed well in class. She no longer had seizures. She overcame a sinister, rare disease that could have changed her life forever, or ended it completely.
Her diagnosis was dire. But rapid identification of the disease and her successful treatment is a testament to the concerted efforts of researchers and medical practitioners. Professionals who are advancing the field of medicine and science are returning patients, one by one, back to their lives.
Cahalan, S. (2012). Brain on fire: My month of madness. New York: Free Press.
The Anti NMDA Receptor Encephalitis Foundation Inc. | We are Anti NMDA Receptor Encephalitis! (n.d.). Retrieved September 14, 2015.
Ziaeian, B., & Shamsa, K. (2015). Dazed, Confused, and Asystolic: Possible Signs of Anti– N -Methyl- D -Aspartate Receptor Encephalitis. Texas Heart Institute Journal, 175-177.
Update 9/18/2015 – Edited by Paige Jarreau