The patient was diagnosed with a heart defect (tetralogy of Fallot with pulmonary atresia) before she was born, which was repaired after birth. She was also found to have problems with the connection between her brain and spinal cord (Chiari I malformation) and the spinal cord itself (tethered cord). She … read more
At 11 months old, the participant’s parents noticed that he was delayed developmentally and was unable to sit up on his own. He began walking with a walker at age 3. He was evaluated by neurology and received a brain MRI that showed an abnormality of brain white matter (periventricular … read more
The participant was born after a pregnancy that was complicated by maternal nausea, urinary tract and ear infections, and anemia. Her birth was uncomplicated, but 8 hours later she began experiencing choking episodes, difficulty breathing, and abnormal movements. The choking episodes continued to occur sporadically over the following months. Imaging … read more
