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.

• Eye swelling (orbital inflammation)
• Primary immune deficiency (low IGG)
• Inflammatory disease of the muscle (polymyositis)
• Missing thyroid (absent thyroid)
• Facial paralysis (bilateral congenital facial nerve palsy)
• Difficulty feeding
• Improper closing of soft palate muscle in mouth when speaking (velopharyngeal insufficiency)
• Elevated hemidiaphragm
• High blood pressure (systolic hypertension)

• Levothyroxine for hypothyroidism
• Prednisone for periorbital swelling
• Cellcept for periorbital swelling
• Hydrochlorothiazide for high blood pressure
• IV immunoglobulins for hypogammaglobulinemia
• Speech therapy

• Amlodipine for high blood pressure
• Decadron for periorbital swelling
• Solumedrol for periorbital swelling

• Rituximab if found to be autoantibody mediated process
• Facial nerve reconstruction for facial palsy