The participant’s parents began to have concerns about her development when she stopped babbling at 3 months. She started to have different eye movements around 6 months and, when she began walking at 18 months, she walked differently (ataxic gait). She was treated with rituximab, IVIG, and ACTH, which helped … read more
The participant was born full-term after an uncomplicated birth. At 10 months, her left eye began to turn inward at times (intermittent esotropia), which progressed to her right eye and became constant. She had surgery at 1 year old, and immediately after was noticed to have abnormal eye movements (downbeating … read more
When the patient was 4 months old, she was noticed to have poor head control and low muscle tone. At 10 months, she had a brain MRI that showed mild thinning of the nerve fibers that join the two hemispheres of the brain (called the corpus callosum) and delay in … read more
