Female, age 1, with brain abnormalities (agenesis of the corpus callosum and arachnoid cyst) and chronic diarrhea caused by a change in the ARX gene (with severity impacted by her diagnosis of mosaic Turner syndrome)
Aug 14, 2019
The participant was noted to have a brain abnormality (agenesis of the corpus callosum) on a fetal ultrasound. Further testing during the pregnancy was positive for mosaic Turner syndrome.
At two days old, the participant began experiencing diarrhea. At 5 weeks old, she was admitted to the hospital for severe dehydration and 20-30 loose stools per day. The care team tried many different infant formulas and found that, while some lessened the participant’s diarrhea, none resolved the problem entirely. She was started on total parenteral nutrition (TPN) to maintain her needed nutrients. Over time, blended meats and vegetables have been added to her diet.
An MRI done after birth confirmed agenesis of the corpus callosum and identified an arachnoid cyst.
The participant has been developing as expected and can sit on her own, babble, and grab objects.
Foley catheter
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
