The participant was born after a pregnancy complicated by bleeding at 20 weeks and delivered by c-section due to fetal distress at 40 weeks. Her parents became concerned when she was 2 months old because she had low muscle tone. Her head was also leaning to one side (congenital muscular … read more
Shortly after birth, the participant was found to have low blood platelet levels (thrombocytopenia), anemia, a heart defect (atrial septal defect), low muscle tone (hypotonia), cataracts, and a blueberry muffin rash. She required transfusions with packed red blood cells and platelets for anemia and nasogastric intubation (NG tube) for feeding. … read more
Early in life, the patient had trouble meeting her developmental milestones (global developmental delay). She struggled with speech (expressive and receptive language delay) and did not walk until age 3. At age 4, she started to have muscle weakness and spasms in her legs and arms (spastic paraparesis). She also … read more
