By Victoria Barker
Your little boy is sick. He woke up Monday morning with a rash all over his arms, face and chest. It almost looks like measles, or even rubella. But you were diligent. As a first-time mom you made sure that your darling new child was vaccinated at the CDC-recommended 12 months of age. So what could it be? Regardless, there was no way your little boy was going to pre-school today.
Why is it children never get sick on weekends? You call work to take the day off. Needless to say your boss isn’t happy that you are (once again) missing meetings. The rash doesn’t seem to itch or be painful but you still schedule an emergency appointment with your pediatrician. Just to be safe, of course.
The pediatrician is surprisingly unhelpful. She assures you that the rash isn’t contagious and will go away on its own. The next day, you drop him off at pre-school. The rash remains and some of the kids make fun of him for it. But none of the other children present with rashes. Maybe it isn’t contagious after all.
Two weeks later, the rash still hasn’t gone away. There’s no pain, no fever, no preexisting condition. The pediatrician assures you it will go away on its own. Until one night at dinner, you notice that he has started sticking his tongue out at you. You think it’s a joke, just a nearly two-year-old acting silly. But then he keeps doing it. You finally get him down to sleep but the next morning his right arm starts twitching. He’s lethargic and quiet, not wanting to interact. You take his temperature. Your little boy is burning up. Clearly this isn’t nothing.
It’s time for an emergency trip to the hospital. The doctors immediately admit him. His temperature is now over 102 degrees. The muscles in his face and mouth are twitching furiously and his arms have begun to flail. The doctors begin running tests with names that sound like they came from a House episode: lumbar puncture, EEG, brain MRI, chest CT, cerebral angiogram.
They check his vitamin E and copper levels, examine his striated muscle and voltage-gated potassium channels. What on earth is a Purkinje cell cytoplasmic antibody? Or a collapsin response-mediator protein-5? You don’t know, but like the rest, the results come back either negative or inconclusive.
The medications change as frequently as the tests: clonazepam, amantadine, haloperidol, carbamazepine, levetiracetam, valproic acid, prednisone. None of them stop his seizures, which have become more frequent.
On day 47, the doctors insert a feeding tube directly into his stomach. Your little boy hasn’t been able to eat properly since the tongue thrusting began and since he entered the hospital he has lost nearly 10% of his small body weight. He is dangerously thin, wasting away amongst the feeding tubes and IVs, still scaring the nurses with his flailing arm movements. So far none of the drugs have worked and not for the first time you wonder, is he going to die? He looks so frail and innocent, lying in the oversized hospital bed with tubes snaking in and out of his little body.
The doctors have a new diagnosis: postinfectious encephalitis. His brain is swollen as a physiological response to unknown virus. They begin treatment of IV immunoglobulin twice a week. This concoction contains antibodies pooled from blood donors and is use to treat autoimmune diseases. But like the rest, improvement is minimal.
Day 66 is your miracle day! Your little boy has been in the hospital now for over two months. The doctors reexamined the cerebral spinal fluid taken during a lumbar puncture and found antibodies to the NMDA-receptor. The NMDA-receptor is a channel protein found in nerve cells that allows for proper nervous impulses and memory function. He is prescribed rituximab, a drug that destroys B cells. These cells are creating antibodies which are making your little boy sick. As the antibodies leave his system, all of his symptoms are repressed within days. The results are unbelievable!
Five days later, the doctors say that you can go home; your little boy is being discharged! After such a long ordeal it seems impossible that he could be better so quickly. He will have to come back to the hospital periodically over the next few weeks for rituximab and IV immunoglobulin infusions, but is deemed healthy. Valproic acid is prescribed to prevent any further seizures at home. You wheel him out of the hospital in a wheelchair, feeling elated.
One month later, all of his follow-up treatments have been completed and your son is back to his old self. He has regained the lost weight and his rash has disappeared. By three months, he once again eats normally and has had no further flailing of his arms or legs, and no tongue thrusting. The doctors say that he was very lucky, anti-NMDA receptor encephalitis is a rare and often misdiagnosed disease, with potentially fatal consequences. It is hard to believe that the happy, smiling boy eating Cheerios on the kitchen counter was having daily seizures in his hospital bed just a few short months ago. You are eternally grateful to the medical staff who saved your son’s life and can count your blessings that he is once again a vivacious child with his whole life ahead of him.
NOTE: The progress of symptoms and treatment in this story are consistent with a case study of a 20-month-old boy suffering from anti-NMDA receptor encephalitis. He is the youngest patient ever to be diagnosed with this disease. All additional narrative was added at the author’s discretion.
Wong-Kisiel, L. C., et al. “Response to immunotherapy in a 20-month-old boy with anti-NMDA receptor encephalitis.” Neurology 74.19 (2010): 1550-1551.
Update 9/18/2015 – Edited by Paige Jarreau