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Female, age 2 with an undiagnosed condition

Date of Report April 25, 2016
Description 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 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)
  • 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
Genetic Variants of Interest Clinicians and researchers are investigating the following genetic changes to see if they are causing the patient’s symptoms:
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
ARHGEF17* autosomal recessive chr11:73078743 NM_014786.3 c.6110G>A p.R2037Q
p.Arg2037Gln
DUOX2* autosomal dominant chr15:45403695 NM_014080.4 c.602dupG p.Q202TfsX99
ZBTB24*/** autosomal recessive chr6:109802778 NM_014797.2 c.452C>G p.S151C
p.Ser151Cys
**Patient only has one variant
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