During the first year of her life, the patient was developing normally, but was delayed in crawling and babbling. At a year and a half, her mother noticed that she did not interact with other people and would mostly focus on objects and dirt. At age 2, she was diagnosed … 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
At the age of 4, the participant started having breathing problems. Shortly after, she had a bluish color to the skin due to low blood oxygen levels (cyanosis). These symptoms were determined to be the result of interstitial lung disease, which led to mild high blood pressure in the lungs … read more
