Apr 25, 2016
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 blood pressure has been consistently elevated and she has had intermittent transaminitis. She has also had several bacterial and fungal infections; raised red plaques on her elbows, chest, and face; and one episode of fingertip peeling, which lasted for 2 months. Recently a muscle biopsy of the thigh showed inflammatory disease of the muscle (polymyositis), which has caused atrophy of the pelvis and thighs (proximal muscles) and secondary mitochondrial depletion.
Clinicians and researchers are investigating the following genetic change to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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