Female, age 32, with short stature, abnormal calcification in the kidneys (nephrocalcinosis), progressive hearing impairment (sensorineural), and diabetes
Jun 08, 2018
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.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
