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Participant 002

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 2, with absent thyroid and inflammatory disease of the muscle (polymyositis)

Date of Report

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.

Symptoms / Signs
  • 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)
Current Treatments
  • Levothyroxine for hypothyroidism
  • Prednisone for periorbital swelling
  • Cellcept for periorbital swelling
  • Hydrochlorothiazide for high blood pressure
  • IV immunoglobulins for hypogammaglobulinemia
  • Speech therapy
Prior Treatments
  • Amlodipine for high blood pressure
  • Decadron for periorbital swelling
  • Solumedrol for periorbital swelling
Considered treatments
  • Rituximab if found to be autoantibody mediated process
  • Facial nerve reconstruction for facial palsy
Previously Considered Diagnoses
  • Mitochondrial condition
  • Congenital disorder of glycosylation
  • Langerhans cell histiocytosis
  • Velocardiofacial syndrome
  • Moebius syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal recessive

If this participant sounds like you or someone you know, please contact us!


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