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Participant 074


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Female, age 32 with short stature, abnormal calcification in the kidneys (nephrocalcinosis), progressive hearing impairment (sensorineural), and diabetes

Date of Report

Jun 08, 2018

Description

The participant was first noticed to have short stature when she was 6 years old. Around 7-8 years old, she was found to have an abnormal eye structure (abnormality of the cornea morphology and corneal endothelium), hearing impairment (sensorineural), and a hand tremor. Her hearing impairment and tremor have worsened over the years.

When she was 21 years old, she was found to have diabetes mellitus that was initially diagnosed as type 2, but then changed to type 1. As an adult, she has also been found to have immune system abnormalities (antinuclear antibody positivity, anti-thyroid peroxidase antibody positivity) and abnormal calcification in the kidneys (nephrocalcinosis), which has caused mild kidney damage.

The participant has been diagnosed with complex regional pain syndrome affecting the lower right limb and experiences headaches with nausea and dizziness. Multiple neurological evaluations have been unable to find an underlying cause of these symptoms. Her complex medical history could be explained by a mitochondrial disorder or by more than one diagnosis.

Symptoms / Signs
  • Short stature
  • Abnormal calcification in the kidneys (nephrocalcinosis)
  • Type I diabetes mellitus
  • Abnormal eye structure (abnormality of the cornea morphology and corneal endothelium)
  • Visual impairment
  • Hearing impairment (progressive sensorineural hearing loss)
  • Immune system abnormalities (antinuclear antibody positivity, anti-thyroid peroxidase antibody positivity)
  • Tremor
  • Hip flexor and ankle weakness
  • Damaged nerves in the hands and feet (peripheral neuropathy)
  • Abnormal walk with a foot drop (steppage gait)
  • Celiac disease
  • Adrenal insufficiency (secondary)
  • Weak bones (osteopenia)
  • Migraine
  • Depressivity
  • Complex regional pain syndrome
  • Dental crowding
  • Difficulty speaking (aphasia, may be due to migraines)
  • Abnormal (narrow) pharynx
  • Arthritis (osteoarthritis of the small joints of the hand)
Current Treatments
  • Baclofen, Ketamine, Percocet – chronic pain
  • Steroids— adrenal insufficiency
  • Insulin- diabetes
Prior Treatments
Considered treatments
  • Growth hormone replacement – osteopenia
Previously Considered Diagnoses
  • Alport syndrome
  • Congenital hereditary endothelial dystrophy
  • Harboyan syndrome
  • Immune dysregulation disorder
  • Microdeletion/duplication disorder
  • Mitochondrial condition
  • Usher syndrome
  • Wilson disease
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant (maternally inherited)
Chr12: 48383055
NM_001844
c.1078G>A
p.G360S
Contact

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