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Participant 183


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Female, age 13 with immune deficiency, joint pain (arthralgia), inflammation of the blood vessels in the eye (retinal vasculitis), and recurrent inflammation of the liver (hepatitis) caused by a change in the GDF11 gene

Date of Report

Jun 14, 2021

Description

The participant was referred to the UDN due to a complex history including tall stature, recurrent joint pain (arthralgia), and immune deficiency. She also has back pain and was previously been found to have Bertolotti syndrome and slipped vertebrae (spondylolisthesis).

At 5 years old, she was found to have inflammation of the blood vessels in her eyes (retinal vasculitis), which was treated with methotrexate for 1.5 years. The participant had two occurrences of hepatitis while taking methotrexate and had one occurrence after she stopped taking it. She has a history of abdominal pain caused by multiple occurrences of scar tissue in her abdomen (abdominal adhesions).

At 8 years old, the participant developed increased muscle weakness and was diagnosed with myasthenia gravis, which she is currently being treated for. She was diagnosed with an autoimmune brain disease (Hashimoto encephalopathy), which caused a sudden onset of memory and attention difficulties. She is also undergoing treatment for scar tissue buildup in her abdomen (abdominal adhesions).

Symptoms / Signs
  • Autoimmune brain disease (Hashimoto encephalopathy)
  • Fatigable weakness (myasthenia gravis)
  • Depression
  • Low antibody levels (decreased circulating antibodies)
  • Inflammation of blood vessels (vasculitis)
  • Inflammation of the liver (hepatitis)
  • Joint pain (arthralgia)
  • Tall stature
  • High palate
  • Prominent forehead
  • Dilated pupils
  • Intermediate inflammation of the eye (uveitis)
  • Low-set ears
  • Inverted nipples
  • Scar tissue in abdomen (abdominal adhesions)
  • Increased curvature of the spine (scoliosis)
  • Slipped vertebrae (spondylolisthesis at L5-S1)
  • Small gap in spine (spina bifida occulta)
  • Long fingers
  • Long toe
  • Joints move beyond normal range (joint hypermobility)
  • Low muscle tone (mild hypotonia)
  • Red lines on skin (telangiectasia)
Current Treatments
  • Adderall
  • IVIG infusions
  • Methotrexate – adhesions
  • Pristiq
  • Zofran
Prior Treatments
  • Amitriptyline
  • Fusion of vertebrae
  • Indocin
  • Melatonin
  • Mestinon
  • Surgical lysis of adhesions
  • Zithromax
Considered treatments
Previously Considered Diagnoses
  • Autoimmune disorders
  • Collagen IV disorders
  • Microdeletion/microduplication syndromes
  • Stevens-Johnson-like syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
Autosomal dominant
See gene page
See gene page
See gene page
See gene page
Contact

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

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