Mom alarmed by toddler's head tilt
'Always listen closely to mothers," wise pediatricians tell their less-experienced colleagues. I didn't follow that dictum recently when my patient's mother came into our office with a concern that her 1-year-old daughter's head was leaning more to the left side.
'Always listen closely to mothers," wise pediatricians tell their less-experienced colleagues.
I didn't follow that dictum recently when my patient's mother came into our office with a concern that her 1-year-old daughter's head was leaning more to the left side.
I quickly reviewed her chart, finding no significant past medical history.
The mother first noticed her daughter's head tilting to the left when she started walking about a month ago. It didn't occur all the time, the mother said, but just over the previous week, it had become worse.
She also said she seemed clumsier and tended to fall down, even more than her other children after they started walking.
I chalked up all her symptoms to her learning to walk. This is the reason they are called "toddlers," I told her.
In my physical exam, I could barely notice the head tilt and only when she was walking away from me. The rest of her head and neck exam was completely normal. I was able to move her neck around without any discomfort. I could barely convince myself of the head tilt that her mother insisted was present.
I made the diagnosis of torticollis, also called wryneck, and advised the mother to call me if anything got worse.
Torticollis is usually caused by neck trauma (none), swelling in the neck (didn't feel any), brain or eye problems (her exam was too perfect for this), or just a normal toddler learning how to walk upright.
"Listen to the mother" reverberated in my head, but the child's relatively normal exam swayed me away from this advice. I felt confident that things would get better with time.
Three days later, she returned with a completely changed exam. The subtle left head tilt was still present, but now she was unable to walk, and her right eyelid lagged downward like a window shade unable to open. Her right eye also drifted outward. The rest of her exam was completely normal.
My heart raced as ominous medical problems flooded my consciousness.
I called ahead to our hospital to admit this frightened toddler as I tried to put all her symptoms together for a unifying diagnosis. Torticollis, inability to walk, and eye issues. My heart ached for this family as they walked out of my examining room to their car with the unspoken words "brain tumor" etched in everyone's mind, including the neurologist on call.
My patient was sent for an immediate brain MRI to find the location of the brain abnormality. The results were surprising: "Normal," read the radiologist's report. I breathed a brief sigh of relief, but the road to a diagnosis just became a little more complicated.
Solution:
The neurology service was consulted, and with the normal MRI results, we started to piece this puzzle together.
The incredible cascade of events that has to occur for a muscle to work perfectly is a masterpiece of human anatomy. The signal starts in the brain, travels down and out the spinal cord to millions of nerves that send a signal for a specific muscle to move, stay open, and hold a child's head upright.
Where in this magnificent flow of signals did something go wrong?
Just like two roads coming together, the human body has millions of neuromuscular junctions where nerves communicate with muscles of the body to tell them when and how to move. A chemical goes from the nerve to receptors on the muscles to let them know when to act. What if the muscle cannot sense the signal? How does this happen?
The next morning, the neurologist and I sat next to my patient as she was given Tensilon, a medicine that allows the chemical signal in the neuromuscular junction to do its job. The results were immediate. Her head tilt disappeared, and her eye opened fully, enabling her to see the many balloons surrounding her bed.
Her diagnosis: Myasthenia gravis, an autoimmune disorder where her own body attacked receptors on some muscles, making them incapable of moving.
Thomas Willis, an English physician from the 1600s, provided the first clinical description of this condition:
" . . . In the morning they are able to walk firmly, to fling about their arms hither and thither, or take up any heavy thing; before noon the stock of the Spirits being spent, which has flowed into the muscles, they are scare able to move hand or foot."
Many clinicians described similar patients, and in the late 1800s, it was called myasthenia (Greek for "muscle weakness") gravis (Latin for "heavy" or "severe").
Early treatments included poisons such as strychnine, iodine, arsenic, and ephedrine. In 1933, in what has been called the Miracle at St. Alfege's, a London hospital, a house officer named Mary Walker deduced that myasthenia gravis patients act a lot like patients poisoned by curare, and the antidote for curare poisoning was a drug called physostigmine. On June 16, 1934, she injected a myasthenic woman, 56, with this drug with vivid results.
This drug was later replaced by Tensilon, which had fewer side effects.
My patient was started on Tensilon and steroids, and her condition improved. The condition can wax and wane, so she will need more medicine when weakness occurs. We also introduced the parents to the Myasthenia Gravis Foundation (www.myasthenia.org) to learn more.
I smiled at my patient's mother as her daughter walked out of the hospital with no head tilt and eyes wide open, and her mother smiled back at me, joyful that her daughter was well again and satisfied in her astute, motherly instincts.