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Participant 002


On this page, you will find information about a UDN participant. We are trying to find others with the same or similar condition.

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Female, age 2 with an undiagnosed condition

Date of Report

Apr 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
Other Photographs
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
autosomal recessive
chr11:73078743
NM_014786.3
c.6110G>A
p.R2037Q p.Arg2037Gln
autosomal dominant
chr15:45403695
NM_014080.4
c.602dupG
p.Q202TfsX99
autosomal recessive
chr6:109802778
NM_014797.2
c.452C>G
p.S151C p.Ser151Cys
Contact

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