The participant was meeting his developmental milestones until age 6 when he started to struggle with walking, falling 2-3 times a month. He also started slurring his words and his speech became muffled, making it difficult to understand. A year later when he was evaluated, he was found to have … read more
Shortly after birth, the participant had difficulty growing (failure to thrive in infancy). Testing at this time revealed delayed gastric emptying (gastroparesis) and severe acid reflux (gastroesophageal reflux). Surgery was performed and a nasogastric feeding tube was placed to help support his growth. The participant experienced recurrent ear infections (recurrent … read more
After birth, the patient was found to be missing a thyroid (absent thyroid). She proceeded to have difficulty feeding, which may have been the result of facial paralysis. At 9 months, she was brought to the hospital with swelling around both eyes and a biopsy showed atypical histiocytic cells. Her … read more
